{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:45:33Z","timestamp":1791805533669,"version":"4.3.4"},"reference-count":160,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T00:00:00Z","timestamp":1755820800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["rep.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,8,22]]},"abstract":"<jats:p>\n                    Polycystic ovary syndrome (PCOS) is a common and heterogeneous disorder currently diagnosed only in reproductive-age women. Familial clustering and twin studies have provided strong evidence for a genetic contribution to PCOS pathogenesis. First-degree relatives, including males and non-reproductive-age females, have reproductive and metabolic phenotypes consistent with a genetic susceptibility to these traits. PCOS is now recognized as a complex trait influenced by both genetic and environmental factors. Genome-wide association studies have identified \u223c30 loci linked to PCOS, implicating pathways involved in gonadotropin secretion and action, folliculogenesis, steroidogenesis, age at menopause, and carbohydrate metabolism. Next-generation sequencing has found rare variants in\n                    <jats:italic>AMH<\/jats:italic>\n                    ,\n                    <jats:italic>AMHR2<\/jats:italic>\n                    , and\n                    <jats:italic>DENND1A<\/jats:italic>\n                    , supporting these genes\u2019 central role in developing PCOS. Epigenetic mechanisms, such as DNA methylation and non-coding RNAs, influence gene regulation and may contribute to phenotypic heterogeneity. Unsupervised clustering has identified distinct reproductive and metabolic subtypes with unique genetic architectures, providing a biologically meaningful framework for classification. This shift from expert opinion-based diagnosis to data-driven classification has the potential to transform PCOS management and enable precision medicine approaches tailored to distinct subtypes of the disorder.\n                  <\/jats:p>","DOI":"10.1530\/rep-25-0126","type":"journal-article","created":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T17:19:18Z","timestamp":1756747158000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-11","source":"Crossref","is-referenced-by-count":26,"title":["POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS)"],"prefix":"10.1093","volume":"170","author":[{"given":"Yvonne V","family":"Louwers","sequence":"first","affiliation":[{"name":"Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Erasmus University Medical Center, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny A","family":"Visser","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Dunaif","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5444-9845","authenticated-orcid":true,"given":"Joop S E","family":"Laven","sequence":"additional","affiliation":[{"name":"Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Erasmus University Medical Center, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"bib1","series-title":"J Clin Endocrinol Metab","first-page":"153","article-title":"Characterizing the clinical and genetic spectrum of polycystic ovary syndrome in electronic health records","volume":"106","author":"Actkins KV","year":"2021","unstructured":"Actkins KV\n, \nSingh K\n, \nHucks D\n, et al.\n 2021 Characterizing the clinical and genetic spectrum of polycystic ovary syndrome in electronic health records. J Clin Endocrinol Metab 106 153\u2013167. (https:\/\/doi.org\/10.1210\/clinem\/dgaa675)"},{"key":"bib2","series-title":"Lancet Diabetes Endocrinol","first-page":"361","article-title":"Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables","volume":"6","author":"Ahlqvist E","year":"2018","unstructured":"Ahlqvist E\n, \nStorm P\n, \nKarajamaki A\n, et al.\n 2018 Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables. Lancet Diabetes Endocrinol 6 361\u2013369. (https:\/\/doi.org\/10.1016\/s2213-8587(18)30051-2)"},{"key":"bib3","series-title":"Hum Reprod Update","first-page":"63","article-title":"Transgenerational developmental programming","volume":"20","author":"Aiken CE","year":"2014","unstructured":"Aiken CE\n & \nOzanne SE\n\n 2014 Transgenerational developmental programming. Hum Reprod Update 20 63\u201375. (https:\/\/doi.org\/10.1093\/humupd\/dmt043)"},{"key":"bib4","series-title":"Genome Med","first-page":"24","article-title":"Testing for rare variant associations in complex diseases","volume":"3","author":"Asimit J","year":"2011","unstructured":"Asimit J\n & \nZeggini E\n\n 2011 Testing for rare variant associations in complex diseases. Genome Med 3 24. (https:\/\/doi.org\/10.1186\/gm238)"},{"key":"bib5","series-title":"J Pediatr Endocrinol Metab","first-page":"1303","article-title":"Family history as a risk factor for the polycystic ovary syndrome","volume":"13","author":"Azziz R","year":"2000","unstructured":"Azziz R\n & \nKashar-Miller MD\n\n 2000 Family history as a risk factor for the polycystic ovary syndrome. J Pediatr Endocrinol Metab 13 (Supplement 5) 1303\u20131306."},{"key":"bib6","series-title":"J Clin Endocrinol Metab","first-page":"e2217","article-title":"Rare variation in LMNA underlies polycystic ovary syndrome (PCOS) pathogenesis in two independent cohorts","volume":"110","author":"Bauer R","year":"2024","unstructured":"Bauer R\n, \nParker C\n, \nGorsic LK\n, et al.\n 2024 Rare variation in LMNA underlies polycystic ovary syndrome (PCOS) pathogenesis in two independent cohorts. J Clin Endocrinol Metab 110 e2217\u2013e2232. (https:\/\/doi.org\/10.1210\/clinem\/dgae761)"},{"key":"bib7","series-title":"Ir J Med Sci","first-page":"2859","article-title":"Identification of potential miRNA-mRNA regulatory network contributing to pathogenesis of polycystic ovarian syndrome","volume":"193","author":"Bhandary P","year":"2024","unstructured":"Bhandary P\n, \nAlagundagi DB\n, \nShetty PK\n, et al.\n 2024 Identification of potential miRNA-mRNA regulatory network contributing to pathogenesis of polycystic ovarian syndrome. Ir J Med Sci 193 2859\u20132868. (https:\/\/doi.org\/10.1007\/s11845-024-03795-2)"},{"key":"bib8","series-title":"Breast Cancer Res","first-page":"161","article-title":"The shared genetic landscape of polycystic ovary syndrome and breast cancer: convergence on ER + breast cancer but not ER\u2212 breast cancer","volume":"26","author":"Bi K","year":"2024","unstructured":"Bi K\n, \nChen M\n, \nZhao Q\n, et al.\n 2024 The shared genetic landscape of polycystic ovary syndrome and breast cancer: convergence on ER + breast cancer but not ER\u2212 breast cancer. Breast Cancer Res 26 161. (https:\/\/doi.org\/10.1186\/s13058-024-01923-5)"},{"key":"bib9","series-title":"Fertil Steril","first-page":"1772","article-title":"Relationship between polycystic ovary syndrome and ancestry in European Americans","volume":"106","author":"Bjonnes AC","year":"2016","unstructured":"Bjonnes AC\n, \nSaxena R\n & \nWelt CK\n\n 2016 Relationship between polycystic ovary syndrome and ancestry in European Americans. Fertil Steril 106 1772\u20131777. (https:\/\/doi.org\/10.1016\/j.fertnstert.2016.08.033)"},{"key":"bib10","series-title":"Cell","first-page":"1177","article-title":"An expanded view of complex traits: from polygenic to omnigenic","volume":"169","author":"Boyle EA","year":"2017","unstructured":"Boyle EA\n, \nLi YI\n & \nPritchard JK\n\n 2017 An expanded view of complex traits: from polygenic to omnigenic. Cell 169 1177\u20131186. (https:\/\/doi.org\/10.1016\/j.cell.2017.05.038)"},{"key":"bib11","series-title":"J Clin Endocrinol Metab","first-page":"4421","article-title":"Perspectives on polycystic ovary syndrome: is polycystic ovary syndrome research underfunded?","volume":"102","author":"Brakta S","year":"2017","unstructured":"Brakta S\n, \nLizneva D\n, \nMykhalchenko K\n, et al.\n 2017 Perspectives on polycystic ovary syndrome: is polycystic ovary syndrome research underfunded? J Clin Endocrinol Metab 102 4421\u20134427. (https:\/\/doi.org\/10.1210\/jc.2017-01415)"},{"key":"bib12","series-title":"J Endocr Soc","first-page":"A711","article-title":"RF10|PMON217 replication of PCOS reproductive and metabolic subtypes in diverse cohorts \u2013 towards a rationale approach to PCOS classification","volume":"6","author":"Brewer K","year":"2022","unstructured":"Brewer K\n, \nDapas M\n, \nDiamanti-Kandarakis E\n, et al.\n 2022 RF10|PMON217 replication of PCOS reproductive and metabolic subtypes in diverse cohorts \u2013 towards a rationale approach to PCOS classification. J Endocr Soc 6 (Supplement_1) A711. (https:\/\/doi.org\/10.1210\/jendso\/bvac150.1466)"},{"key":"bib13","series-title":"J Endocr Soc","article-title":"OR20-02 trans-ethnic analysis of PCOS subtype genomewide association signals reveals 3 shared subtype-specific loci","volume":"7","author":"Brewer K","year":"2023","unstructured":"Brewer K\n, \nSisk R\n, \nLee H\n, et al.\n 2023 OR20-02 trans-ethnic analysis of PCOS subtype genomewide association signals reveals 3 shared subtype-specific loci. J Endocr Soc 7 (Supplement_1) bvad114.1654. (https:\/\/doi.org\/10.1210\/jendso\/bvad114.1654)"},{"key":"bib14","series-title":"BJOG","first-page":"1210","article-title":"PCOS according to the Rotterdam consensus criteria: change in prevalence among WHO-II anovulation and association with metabolic factors","volume":"113","author":"Broekmans FJ","year":"2006","unstructured":"Broekmans FJ\n, \nKnauff EA\n, \nValkenburg O\n, et al.\n 2006 PCOS according to the Rotterdam consensus criteria: change in prevalence among WHO-II anovulation and association with metabolic factors. BJOG 113 1210\u20131217. (https:\/\/doi.org\/10.1111\/j.1471-0528.2006.01008.x)"},{"key":"bib15","series-title":"J Clin Endocrinol Metab","first-page":"E182","article-title":"Further investigation in Europeans of susceptibility variants for polycystic ovary syndrome discovered in genome-wide association studies of Chinese individuals","volume":"100","author":"Brower MA","year":"2015","unstructured":"Brower MA\n, \nJones MR\n, \nRotter JI\n, et al.\n 2015 Further investigation in Europeans of susceptibility variants for polycystic ovary syndrome discovered in genome-wide association studies of Chinese individuals. J Clin Endocrinol Metab 100 E182\u2013E186. (https:\/\/doi.org\/10.1210\/jc.2014-2689)"},{"key":"bib16","series-title":"Clin Endocrinol","first-page":"653","article-title":"Evidence for a single gene effect causing polycystic ovaries and male pattern baldness","volume":"38","author":"Carey AH","year":"1993","unstructured":"Carey AH\n, \nChan KL\n, \nShort F\n, et al.\n 1993 Evidence for a single gene effect causing polycystic ovaries and male pattern baldness. Clin Endocrinol 38 653\u2013658. (https:\/\/doi.org\/10.1111\/j.1365-2265.1993.tb02150.x)"},{"key":"bib17","series-title":"Fertil Steril","first-page":"S7","article-title":"Diagnosis, phenotype, and prevalence of polycystic ovary syndrome","volume":"86","author":"Carmina E","year":"2006","unstructured":"Carmina E\n & \nAzziz R\n\n 2006 Diagnosis, phenotype, and prevalence of polycystic ovary syndrome. Fertil Steril 86 (Supplement 1) S7\u2013S8. (https:\/\/doi.org\/10.1016\/j.fertnstert.2006.03.012)"},{"key":"bib18","series-title":"Eur J Obstet Gynecol Reprod Biol","first-page":"59","article-title":"Prevalence of polycystic ovary syndrome in unselected women from southern China","volume":"139","author":"Chen X","year":"2008","unstructured":"Chen X\n, \nYang D\n, \nMo Y\n, et al.\n 2008 Prevalence of polycystic ovary syndrome in unselected women from southern China. Eur J Obstet Gynecol Reprod Biol 139 59\u201364. (https:\/\/doi.org\/10.1016\/j.ejogrb.2007.12.018)"},{"key":"bib19","series-title":"Nat Genet","first-page":"55","article-title":"Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3","volume":"43","author":"Chen ZJ","year":"2011","unstructured":"Chen ZJ\n, \nZhao H\n, \nHe L\n, et al.\n 2011 Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat Genet 43 55\u201359. (https:\/\/doi.org\/10.1038\/ng.732)"},{"key":"bib20","series-title":"Diabetes","first-page":"2278","article-title":"miRNA-93 inhibits GLUT4 and is overexpressed in adipose tissue of polycystic ovary syndrome patients and women with insulin resistance","volume":"62","author":"Chen YH","year":"2013","unstructured":"Chen YH\n, \nHeneidi S\n, \nLee JM\n, et al.\n 2013 miRNA-93 inhibits GLUT4 and is overexpressed in adipose tissue of polycystic ovary syndrome patients and women with insulin resistance. Diabetes 62 2278\u20132286. (https:\/\/doi.org\/10.2337\/db12-0963)"},{"key":"bib21","series-title":"Hum Reprod","first-page":"2345","article-title":"Association of maternal polycystic ovary syndrome or anovulatory infertility with obesity and diabetes in offspring: a population-based cohort study","volume":"36","author":"Chen X","year":"2021","unstructured":"Chen X\n, \nKoivuaho E\n, \nPiltonen TT\n, et al.\n 2021 Association of maternal polycystic ovary syndrome or anovulatory infertility with obesity and diabetes in offspring: a population-based cohort study. Hum Reprod 36 2345\u20132357. (https:\/\/doi.org\/10.1093\/humrep\/deab112)"},{"key":"bib22","series-title":"Mol Cell Endocrinol","article-title":"HDAC1 participates in polycystic ovary syndrome through histone modification by regulating H19\/miR-29a-3p\/NLRP3-mediated granulosa cell pyroptosis","volume":"573","author":"Chen J","year":"2023","unstructured":"Chen J\n, \nZhu Z\n, \nXu S\n, et al.\n 2023 HDAC1 participates in polycystic ovary syndrome through histone modification by regulating H19\/miR-29a-3p\/NLRP3-mediated granulosa cell pyroptosis. Mol Cell Endocrinol 573 111950. (https:\/\/doi.org\/10.1016\/j.mce.2023.111950)"},{"key":"bib23","series-title":"Chin Med J","first-page":"604","article-title":"Cluster analysis reveals a homogeneous subgroup of PCOS women with metabolic disturbance associated with adverse reproductive outcomes","volume":"137","author":"Chen H","year":"2024","unstructured":"Chen H\n, \nZeng R\n, \nZeng X\n, et al.\n 2024 Cluster analysis reveals a homogeneous subgroup of PCOS women with metabolic disturbance associated with adverse reproductive outcomes. Chin Med J 137 604\u2013612. (https:\/\/doi.org\/10.1097\/cm9.0000000000002787)"},{"key":"bib24","series-title":"Fertil Steril","first-page":"1228","article-title":"Polycystic ovarian disease, maturation arrest of spermiogenesis, and Klinefelter\u2019s syndrome in siblings of a family with familial hirsutism","volume":"26","author":"Cohen PN","year":"1975","unstructured":"Cohen PN\n, \nGivens JR\n, \nWiser WL\n, et al.\n 1975 Polycystic ovarian disease, maturation arrest of spermiogenesis, and Klinefelter\u2019s syndrome in siblings of a family with familial hirsutism. Fertil Steril 26 1228\u20131238. (https:\/\/doi.org\/10.1016\/s0015-0282(16)41539-6)"},{"key":"bib25","series-title":"Behav Genet","first-page":"415","article-title":"Heritability and the equal environments assumption: evidence from multiple samples of misclassified twins","volume":"43","author":"Conley D","year":"2013","unstructured":"Conley D\n, \nRauscher E\n, \nDawes C\n, et al.\n 2013 Heritability and the equal environments assumption: evidence from multiple samples of misclassified twins. Behav Genet 43 415\u2013426. (https:\/\/doi.org\/10.1007\/s10519-013-9602-1)"},{"key":"bib26","series-title":"Am J Obstet Gynecol","first-page":"371","article-title":"Hereditary factors in the Stein-Leventhal syndrome","volume":"100","author":"Cooper HE","year":"1968","unstructured":"Cooper HE\n, \nSpellacy WN\n, \nPrem KA\n, et al.\n 1968 Hereditary factors in the Stein-Leventhal syndrome. Am J Obstet Gynecol 100 371\u2013387. (https:\/\/doi.org\/10.1016\/s0002-9378(15)33704-2)"},{"key":"bib27","series-title":"J Clin Endocrinol Metab","first-page":"4361","article-title":"High prevalence of metabolic syndrome in first-degree male relatives of women with polycystic ovary syndrome is related to high rates of obesity","volume":"94","author":"Coviello AD","year":"2009","unstructured":"Coviello AD\n, \nSam S\n, \nLegro RS\n, et al.\n 2009 High prevalence of metabolic syndrome in first-degree male relatives of women with polycystic ovary syndrome is related to high rates of obesity. J Clin Endocrinol Metab 94 4361\u20134366. (https:\/\/doi.org\/10.1210\/jc.2009-1333)"},{"key":"bib28","series-title":"Curr Opin Endocr Metab Res","first-page":"26","article-title":"The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome","volume":"12","author":"Dapas M","year":"2020","unstructured":"Dapas M\n & \nDunaif A\n\n 2020 The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome. Curr Opin Endocr Metab Res 12 26\u201332. (https:\/\/doi.org\/10.1016\/j.coemr.2020.02.011)"},{"key":"bib29","series-title":"Endocr Rev","first-page":"927","article-title":"Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification","volume":"43","author":"Dapas M","year":"2022","unstructured":"Dapas M\n & \nDunaif A\n\n 2022 Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification. Endocr Rev 43 927\u2013965. (https:\/\/doi.org\/10.1210\/endrev\/bnac001)"},{"key":"bib30","series-title":"J Clin Endocrinol Metab","first-page":"3835","article-title":"Family-based quantitative trait meta-analysis implicates rare noncoding variants in DENND1A in polycystic ovary syndrome","volume":"104","author":"Dapas M","year":"2019","unstructured":"Dapas M\n, \nSisk R\n, \nLegro RS\n, et al.\n 2019 Family-based quantitative trait meta-analysis implicates rare noncoding variants in DENND1A in polycystic ovary syndrome. J Clin Endocrinol Metab 104 3835\u20133850. (https:\/\/doi.org\/10.1210\/jc.2018-02496)"},{"key":"bib31","series-title":"PLoS Med","article-title":"Distinct subtypes of polycystic ovary syndrome with novel genetic associations: an unsupervised, phenotypic clustering analysis","volume":"17","author":"Dapas M","year":"2020","unstructured":"Dapas M\n, \nLin FTJ\n, \nNadkarni GN\n, et al.\n 2020 Distinct subtypes of polycystic ovary syndrome with novel genetic associations: an unsupervised, phenotypic clustering analysis. PLoS Med 17 e1003132. (https:\/\/doi.org\/10.1371\/journal.pmed.1003132)"},{"key":"bib32","series-title":"Nat Commun","first-page":"8464","article-title":"Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome","volume":"6","author":"Day FR","year":"2015","unstructured":"Day FR\n, \nHinds DA\n, \nTung JY\n, et al.\n 2015 Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat Commun 6 8464. (https:\/\/doi.org\/10.1038\/ncomms9464)"},{"key":"bib33","series-title":"PLoS Genet","article-title":"Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria","volume":"14","author":"Day F","year":"2018","unstructured":"Day F\n, \nKaraderi T\n, \nJones MR\n, et al.\n 2018 Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. PLoS Genet 14 e1007813. (https:\/\/doi.org\/10.1371\/journal.pgen.1007813)"},{"key":"bib34","series-title":"Endocr Rev","first-page":"981","article-title":"Insulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications","volume":"33","author":"Diamanti-Kandarakis E","year":"2012","unstructured":"Diamanti-Kandarakis E\n & \nDunaif A\n\n 2012 Insulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications. Endocr Rev 33 981\u20131030. (https:\/\/doi.org\/10.1210\/er.2011-1034)"},{"key":"bib35","series-title":"J Clin Endocrinol Metab","first-page":"4006","article-title":"A survey of the polycystic ovary syndrome in the Greek island of Lesbos: hormonal and metabolic profile","volume":"84","author":"Diamanti-Kandarakis E","year":"1999","unstructured":"Diamanti-Kandarakis E\n, \nKouli CR\n, \nBergiele AT\n, et al.\n 1999 A survey of the polycystic ovary syndrome in the Greek island of Lesbos: hormonal and metabolic profile. J Clin Endocrinol Metab 84 4006\u20134011. (https:\/\/doi.org\/10.1210\/jc.84.11.4006)"},{"key":"bib36","series-title":"Cells","first-page":"848","article-title":"Transcriptional and DNA methylation signatures of subcutaneous adipose tissue and adipose-derived stem cells in PCOS women","volume":"11","author":"Divoux A","year":"2022","unstructured":"Divoux A\n, \nErdos E\n, \nWhytock K\n, et al.\n 2022 Transcriptional and DNA methylation signatures of subcutaneous adipose tissue and adipose-derived stem cells in PCOS women. Cells 11 848. (https:\/\/doi.org\/10.3390\/cells11050848)"},{"key":"bib37","series-title":"J Clin Endocrinol Metab","first-page":"759","article-title":"Perspectives in polycystic ovary syndrome: from hair to eternity","volume":"101","author":"Dunaif A","year":"2016","unstructured":"Dunaif A\n\n 2016 Perspectives in polycystic ovary syndrome: from hair to eternity. J Clin Endocrinol Metab 101 759\u2013768. (https:\/\/doi.org\/10.1210\/jc.2015-3780)"},{"key":"bib38","series-title":"PLoS One","article-title":"Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS)","volume":"8","author":"Eriksen MB","year":"2013","unstructured":"Eriksen MB\n, \nNielsen MF\n, \nBrusgaard K\n, et al.\n 2013 Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS). PLoS One 8 e77186. (https:\/\/doi.org\/10.1371\/journal.pone.0077186)"},{"key":"bib39","series-title":"J Clin Endocrinol Metab","first-page":"2306","article-title":"Family-based analysis of candidate genes for polycystic ovary syndrome","volume":"95","author":"Ewens KG","year":"2010","unstructured":"Ewens KG\n, \nStewart DR\n, \nAnkener W\n, et al.\n 2010 Family-based analysis of candidate genes for polycystic ovary syndrome. J Clin Endocrinol Metab 95 2306\u20132315. (https:\/\/doi.org\/10.1210\/jc.2009-2703)"},{"key":"bib40","series-title":"Clin Endocrinol","first-page":"291","article-title":"The inheritance of polycystic ovarian disease and a possible relationship to premature balding","volume":"11","author":"Ferriman D","year":"1979","unstructured":"Ferriman D\n & \nPurdie AW\n\n 1979 The inheritance of polycystic ovarian disease and a possible relationship to premature balding. Clin Endocrinol 11 291\u2013300. (https:\/\/doi.org\/10.1111\/j.1365-2265.1979.tb03077.x)"},{"key":"bib41","series-title":"Neuron","first-page":"484","article-title":"The genetics of major depression","volume":"81","author":"Flint J","year":"2014","unstructured":"Flint J\n & \nKendler KS\n\n 2014 The genetics of major depression. Neuron 81 484\u2013503. (https:\/\/doi.org\/10.1016\/j.neuron.2014.01.027)"},{"key":"bib42","series-title":"J Clin Endocrinol Metab","first-page":"3396","article-title":"Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries","volume":"93","author":"Franks S","year":"2008","unstructured":"Franks S\n, \nWebber LJ\n, \nGoh M\n, et al.\n 2008 Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries. J Clin Endocrinol Metab 93 3396\u20133402. (https:\/\/doi.org\/10.1210\/jc.2008-0369)"},{"key":"bib43","series-title":"Hum Mutat","first-page":"609","article-title":"Detecting false-positive signals in exome sequencing","volume":"33","author":"Fuentes Fajardo KV","year":"2012","unstructured":"Fuentes Fajardo KV\n, \nAdams D\n, NISC Comparative Sequencing Program, \nMason CE\n, et al.\n 2012 Detecting false-positive signals in exome sequencing. Hum Mutat 33 609\u2013613. (https:\/\/doi.org\/10.1002\/humu.22033)"},{"key":"bib44","series-title":"Endocrinol Metab Clin North Am","first-page":"771","article-title":"Familial polycystic ovarian disease","volume":"17","author":"Givens JR","year":"1988","unstructured":"Givens JR\n\n 1988 Familial polycystic ovarian disease. Endocrinol Metab Clin North Am 17 771\u2013783. (https:\/\/doi.org\/10.1016\/s0889-8529(18)30409-2)"},{"key":"bib45","series-title":"Best Pract Res Clin Endocrinol Metab","first-page":"193","article-title":"Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome","volume":"20","author":"Goodarzi MO","year":"2006","unstructured":"Goodarzi MO\n & \nAzziz R\n\n 2006 Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome. Best Pract Res Clin Endocrinol Metab 20 193\u2013205. (https:\/\/doi.org\/10.1016\/j.beem.2006.02.005)"},{"key":"bib46","series-title":"J Clin Endocrinol Metab","first-page":"300","article-title":"Nonreplication of the type 5 17 -hydroxysteroid dehydrogenase gene association with polycystic ovary syndrome","volume":"93","author":"Goodarzi MO","year":"2008","unstructured":"Goodarzi MO\n, \nJones MR\n, \nAntoine HJ\n, et al.\n 2008 Nonreplication of the type 5 17 -hydroxysteroid dehydrogenase gene association with polycystic ovary syndrome. J Clin Endocrinol Metab 93 300\u2013303. (https:\/\/doi.org\/10.1210\/jc.2007-1712)"},{"key":"bib47","series-title":"Fertil Steril","first-page":"1736","article-title":"Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome","volume":"95","author":"Goodarzi MO","year":"2011","unstructured":"Goodarzi MO\n, \nLouwers YV\n, \nTaylor KD\n, et al.\n 2011 Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome. Fertil Steril 95 1736\u201341.e1-11. (https:\/\/doi.org\/10.1016\/j.fertnstert.2011.01.015)"},{"key":"bib48","series-title":"J Clin Endocrinol Metab","first-page":"2862","article-title":"Pathogenic anti-Mullerian hormone variants in polycystic ovary syndrome","volume":"102","author":"Gorsic LK","year":"2017","unstructured":"Gorsic LK\n, \nKosova G\n, \nWerstein B\n, et al.\n 2017 Pathogenic anti-Mullerian hormone variants in polycystic ovary syndrome. J Clin Endocrinol Metab 102 2862\u20132872. (https:\/\/doi.org\/10.1210\/jc.2017-00612)"},{"key":"bib49","series-title":"J Clin Endocrinol Metab","first-page":"2855","article-title":"Functional genetic variation in the anti-mullerian hormone pathway in women with polycystic ovary syndrome","volume":"104","author":"Gorsic LK","year":"2019","unstructured":"Gorsic LK\n, \nDapas M\n, \nLegro RS\n, et al.\n 2019 Functional genetic variation in the anti-mullerian hormone pathway in women with polycystic ovary syndrome. J Clin Endocrinol Metab 104 2855\u20132874. (https:\/\/doi.org\/10.1210\/jc.2018-02178)"},{"key":"bib50","series-title":"J Clin Endocrinol Metab","first-page":"38","article-title":"Polycystic ovaries are inherited as an autosomal dominant trait: analysis of 29 polycystic ovary syndrome and 10 control families","volume":"84","author":"Govind A","year":"1999","unstructured":"Govind A\n, \nObhrai MS\n & \nClayton RN\n\n 1999 Polycystic ovaries are inherited as an autosomal dominant trait: analysis of 29 polycystic ovary syndrome and 10 control families. J Clin Endocrinol Metab 84 38\u201343. (https:\/\/doi.org\/10.1210\/jc.84.1.38)"},{"key":"bib51","series-title":"Endocrinology","first-page":"2471","article-title":"Developmental programming: contribution of epigenetic enzymes to antral follicular defects in the sheep model of PCOS","volume":"160","author":"Guo X","year":"2019","unstructured":"Guo X\n, \nPuttabyatappa M\n, \nThompson RC\n, et al.\n 2019 Developmental programming: contribution of epigenetic enzymes to antral follicular defects in the sheep model of PCOS. Endocrinology 160 2471\u20132484. (https:\/\/doi.org\/10.1210\/en.2019-00389)"},{"key":"bib52","series-title":"Nat Commun","first-page":"7502","article-title":"Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations","volume":"6","author":"Hayes MG","year":"2015","unstructured":"Hayes MG\n, \nUrbanek M\n, \nEhrmann DA\n, et al.\n 2015 Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun 6 7502. (https:\/\/doi.org\/10.1038\/ncomms8502)"},{"key":"bib53","series-title":"J Clin Med","first-page":"1606","article-title":"The genetics of polycystic ovary syndrome: an overview of candidate gene systematic reviews and genome-wide association studies","volume":"8","author":"Hiam D","year":"2019","unstructured":"Hiam D\n, \nMoreno-Asso A\n, \nTeede HJ\n, et al.\n 2019 The genetics of polycystic ovary syndrome: an overview of candidate gene systematic reviews and genome-wide association studies. J Clin Med 8 1606. (https:\/\/doi.org\/10.3390\/jcm8101606)"},{"key":"bib54","series-title":"Nat Rev Genet","first-page":"95","article-title":"Genome-wide association studies for common diseases and complex traits","volume":"6","author":"Hirschhorn JN","year":"2005","unstructured":"Hirschhorn JN\n & \nDaly MJ\n\n 2005 Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6 95\u2013108. (https:\/\/doi.org\/10.1038\/nrg1521)"},{"key":"bib55","series-title":"Taiwan J Obstet Gynecol","first-page":"652","article-title":"Association of miR-146a rs2910164 and miR-222 rs2858060 polymorphisms with the risk of polycystic ovary syndrome in Iranian women: a case-control study","volume":"56","author":"Hosseini AH","year":"2017","unstructured":"Hosseini AH\n, \nKohan L\n, \nAledavood A\n, et al.\n 2017 Association of miR-146a rs2910164 and miR-222 rs2858060 polymorphisms with the risk of polycystic ovary syndrome in Iranian women: a case-control study. Taiwan J Obstet Gynecol 56 652\u2013656. (https:\/\/doi.org\/10.1016\/j.tjog.2017.08.014)"},{"key":"bib56","series-title":"Arch Med Sci","first-page":"887","article-title":"Role of epigenetic modifications in the aberrant CYP19A1 gene expression in polycystic ovary syndrome","volume":"15","author":"Hosseini E","year":"2019","unstructured":"Hosseini E\n, \nShahhoseini M\n, \nAfsharian P\n, et al.\n 2019 Role of epigenetic modifications in the aberrant CYP19A1 gene expression in polycystic ovary syndrome. Arch Med Sci 15 887\u2013895. (https:\/\/doi.org\/10.5114\/aoms.2019.86060)"},{"key":"bib57","series-title":"Hum Mol Genet","first-page":"5009","article-title":"Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia","volume":"23","author":"Houten SM","year":"2014","unstructured":"Houten SM\n, \nDenis S\n, \nte Brinke H\n, et al.\n 2014 Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet 23 5009\u20135016. (https:\/\/doi.org\/10.1093\/hmg\/ddu218)"},{"key":"bib58","series-title":"J Hum Genet","first-page":"660","article-title":"Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition","volume":"57","author":"Hwang JY","year":"2012","unstructured":"Hwang JY\n, \nLee EJ\n, \nJin Go M\n, et al.\n 2012 Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition. J Hum Genet 57 660\u2013664. (https:\/\/doi.org\/10.1038\/jhg.2012.92)"},{"key":"bib59","series-title":"Circ Genom Precis Med","article-title":"Human genetics of obesity and type 2 diabetes mellitus: past, present, and future","volume":"11","author":"Ingelsson E","year":"2018","unstructured":"Ingelsson E\n & \nMcCarthy MI\n\n 2018 Human genetics of obesity and type 2 diabetes mellitus: past, present, and future. Circ Genom Precis Med 11 e002090. (https:\/\/doi.org\/10.1161\/circgen.118.002090)"},{"key":"bib60","series-title":"Gynecol Endocrinol","first-page":"111","article-title":"A twin study of polycystic ovary syndrome and lipids","volume":"11","author":"Jahanfar S","year":"1997","unstructured":"Jahanfar S\n, \nEden JA\n, \nNguyen T\n, et al.\n 1997 A twin study of polycystic ovary syndrome and lipids. Gynecol Endocrinol 11 111\u2013117. (https:\/\/doi.org\/10.3109\/09513599709152521)"},{"key":"bib61","series-title":"J Hum Genet","first-page":"39","article-title":"Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort","volume":"68","author":"Janani DM","year":"2023","unstructured":"Janani DM\n, \nRamasubramanyan S\n, \nChellappa V\n, et al.\n 2023 Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort. J Hum Genet 68 39\u201346. (https:\/\/doi.org\/10.1038\/s10038-022-01093-2)"},{"key":"bib62","series-title":"Reprod Biomed Online","first-page":"613","article-title":"Profiles for long non-coding RNAs in ovarian granulosa cells from women with PCOS with or without hyperandrogenism","volume":"37","author":"Jin L","year":"2018","unstructured":"Jin L\n, \nYang Q\n, \nZhou C\n, et al.\n 2018 Profiles for long non-coding RNAs in ovarian granulosa cells from women with PCOS with or without hyperandrogenism. Reprod Biomed Online 37 613\u2013623. (https:\/\/doi.org\/10.1016\/j.rbmo.2018.08.005)"},{"key":"bib63","series-title":"Am J Obstet Gynecol","first-page":"976","article-title":"Familial hyperthecosis: comparison of endocrinologic and histologic findings with polycystic ovarian disease","volume":"117","author":"Judd HL","year":"1973","unstructured":"Judd HL\n, \nScully RE\n, \nHerbst AL\n, et al.\n 1973 Familial hyperthecosis: comparison of endocrinologic and histologic findings with polycystic ovarian disease. Am J Obstet Gynecol 117 976\u2013982. (https:\/\/doi.org\/10.1016\/0002-9378(73)90071-9)"},{"key":"bib64","series-title":"N Engl J Med","first-page":"739","article-title":"The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man","volume":"294","author":"Kahn CR","year":"1976","unstructured":"Kahn CR\n, \nFlier JS\n, \nBar RS\n, et al.\n 1976 The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. N Engl J Med 294 739\u2013745. (https:\/\/doi.org\/10.1056\/nejm197604012941401)"},{"key":"bib65","series-title":"Cardiovasc Res","first-page":"430","article-title":"Non-coding RNAs as regulators of gene expression and epigenetics","volume":"90","author":"Kaikkonen MU","year":"2011","unstructured":"Kaikkonen MU\n, \nLam MT\n & \nGlass CK\n\n 2011 Non-coding RNAs as regulators of gene expression and epigenetics. Cardiovasc Res 90 430\u2013440. (https:\/\/doi.org\/10.1093\/cvr\/cvr097)"},{"key":"bib66","series-title":"J Obstet Gynaecol Res","first-page":"1202","article-title":"Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified","volume":"48","author":"Karakaya C","year":"2022","unstructured":"Karakaya C\n, \nCil AP\n, \nBilguvar K\n, et al.\n 2022 Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. J Obstet Gynaecol Res 48 1202\u20131211. (https:\/\/doi.org\/10.1111\/jog.15187)"},{"key":"bib67","series-title":"J Steroid Biochem Mol Biol","first-page":"261","article-title":"Heritability and the risk of developing androgen excess","volume":"69","author":"Kashar-Miller M","year":"1999","unstructured":"Kashar-Miller M\n & \nAzziz R\n\n 1999 Heritability and the risk of developing androgen excess. J Steroid Biochem Mol Biol 69 261\u2013268. (https:\/\/doi.org\/10.1016\/s0960-0760(99)00043-6)"},{"key":"bib68","series-title":"Eur J Endocrinol","first-page":"437","article-title":"BMP system expression in GCs from polycystic ovary syndrome women and the in vitro effects of BMP4, BMP6, and BMP7 on GC steroidogenesis","volume":"168","author":"Khalaf M","year":"2013","unstructured":"Khalaf M\n, \nMorera J\n, \nBourret A\n, et al.\n 2013 BMP system expression in GCs from polycystic ovary syndrome women and the in vitro effects of BMP4, BMP6, and BMP7 on GC steroidogenesis. Eur J Endocrinol 168 437\u2013444. (https:\/\/doi.org\/10.1530\/eje-12-0891)"},{"key":"bib69","series-title":"Pak J Med Sci","first-page":"540","article-title":"Whole genome sequencing instead of whole exome sequencing is required to identify the genetic causes of polycystic ovary syndrome in Pakistani families","volume":"34","author":"Khan MJ","year":"2018","unstructured":"Khan MJ\n, \nNazli R\n, \nAhmed J\n, et al.\n 2018 Whole genome sequencing instead of whole exome sequencing is required to identify the genetic causes of polycystic ovary syndrome in Pakistani families. Pak J Med Sci 34 540\u2013545. (https:\/\/doi.org\/10.12669\/pjms.343.14644)"},{"key":"bib70","series-title":"J Clin Endocrinol Metab","first-page":"3078","article-title":"Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States: a prospective study","volume":"83","author":"Knochenhauer ES","year":"1998","unstructured":"Knochenhauer ES\n, \nKey TJ\n, \nKahsar-Miller M\n, et al.\n 1998 Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States: a prospective study. J Clin Endocrinol Metab 83 3078\u20133082. (https:\/\/doi.org\/10.1210\/jc.83.9.3078)"},{"key":"bib71","series-title":"Mol Cell Endocrinol","first-page":"29","article-title":"Genetics of the polycystic ovary syndrome","volume":"373","author":"Kosova G","year":"2013","unstructured":"Kosova G\n & \nUrbanek M\n\n 2013 Genetics of the polycystic ovary syndrome. Mol Cell Endocrinol 373 29\u201338. (https:\/\/doi.org\/10.1016\/j.mce.2012.10.009)"},{"key":"bib72","series-title":"Hum Reprod","first-page":"791","article-title":"The prevalence of polycystic ovary syndrome in a normal population according to the Rotterdam criteria versus revised criteria including anti-Mullerian hormone","volume":"29","author":"Lauritsen MP","year":"2014","unstructured":"Lauritsen MP\n, \nBentzen JG\n, \nPinborg A\n, et al.\n 2014 The prevalence of polycystic ovary syndrome in a normal population according to the Rotterdam criteria versus revised criteria including anti-Mullerian hormone. Hum Reprod 29 791\u2013801. (https:\/\/doi.org\/10.1093\/humrep\/det469)"},{"key":"bib73","series-title":"Front Endocrinol","first-page":"23","article-title":"Follicle stimulating hormone receptor (FSHR) polymorphisms and polycystic ovary syndrome (PCOS)","volume":"10","author":"Laven JSE","year":"2019","unstructured":"Laven JSE\n\n 2019 Follicle stimulating hormone receptor (FSHR) polymorphisms and polycystic ovary syndrome (PCOS). Front Endocrinol 10 23. (https:\/\/doi.org\/10.3389\/fendo.2019.00023)"},{"key":"bib74","series-title":"Cell Stem Cell","first-page":"710","article-title":"Reprogramming the methylome: erasing memory and creating diversity","volume":"14","author":"Lee HJ","year":"2014","unstructured":"Lee HJ\n, \nHore TA\n & \nReik W\n\n 2014 Reprogramming the methylome: erasing memory and creating diversity. Cell Stem Cell 14 710\u2013719. (https:\/\/doi.org\/10.1016\/j.stem.2014.05.008)"},{"key":"bib75","series-title":"Hum Reprod","first-page":"723","article-title":"Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome","volume":"30","author":"Lee H","year":"2015","unstructured":"Lee H\n, \nOh JY\n, \nSung YA\n, et al.\n 2015 Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome. Hum Reprod 30 723\u2013731. (https:\/\/doi.org\/10.1093\/humrep\/deu352)"},{"key":"bib76","series-title":"Proc Natl Acad Sci U S A","first-page":"14956","article-title":"Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome","volume":"95","author":"Legro RS","year":"1998","unstructured":"Legro RS\n, \nDriscoll D\n, \nStrauss JF 3rd\n, et al.\n 1998 Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci U S A 95 14956\u201314960. (https:\/\/doi.org\/10.1073\/pnas.95.25.14956)"},{"key":"bib77","series-title":"J Clin Endocrinol Metab","first-page":"2128","article-title":"Insulin resistance in the sisters of women with polycystic ovary syndrome: association with hyperandrogenemia rather than menstrual irregularity","volume":"87","author":"Legro RS","year":"2002a","unstructured":"Legro RS\n, \nBentley-Lewis R\n, \nDriscoll D\n, et al.\n 2002a Insulin resistance in the sisters of women with polycystic ovary syndrome: association with hyperandrogenemia rather than menstrual irregularity. J Clin Endocrinol Metab 87 2128\u20132133. (https:\/\/doi.org\/10.1210\/jcem.87.5.8513)"},{"key":"bib78","series-title":"J Clin Endocrinol Metab","first-page":"2134","article-title":"Elevated dehydroepiandrosterone sulfate levels as the reproductive phenotype in the brothers of women with polycystic ovary syndrome","volume":"87","author":"Legro RS","year":"2002b","unstructured":"Legro RS\n, \nKunselman AR\n, \nDemers L\n, et al.\n 2002b Elevated dehydroepiandrosterone sulfate levels as the reproductive phenotype in the brothers of women with polycystic ovary syndrome. J Clin Endocrinol Metab 87 2134\u20132138. (https:\/\/doi.org\/10.1210\/jcem.87.5.8387)"},{"key":"bib79","series-title":"J Med Genet","first-page":"254","article-title":"Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome","volume":"49","author":"Li T","year":"2012","unstructured":"Li T\n, \nZhao H\n, \nZhao X\n, et al.\n 2012 Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome. J Med Genet 49 254\u2013257. (https:\/\/doi.org\/10.1136\/jmedgenet-2011-100727)"},{"key":"bib80","series-title":"Cell","first-page":"1022","article-title":"Trans effects on gene expression can drive omnigenic inheritance","volume":"177","author":"Liu X","year":"2019","unstructured":"Liu X\n, \nLi YI\n & \nPritchard JK\n\n 2019 Trans effects on gene expression can drive omnigenic inheritance. Cell 177 1022\u20131034 e6. (https:\/\/doi.org\/10.1016\/j.cell.2019.04.014)"},{"key":"bib81","series-title":"Cell Physiol Biochem","first-page":"1304","article-title":"Characterization of serum microRNAs profile of PCOS and identification of novel non-invasive biomarkers","volume":"33","author":"Long W","year":"2014","unstructured":"Long W\n, \nZhao C\n, \nJi C\n, et al.\n 2014 Characterization of serum microRNAs profile of PCOS and identification of novel non-invasive biomarkers. Cell Physiol Biochem 33 1304\u20131315. (https:\/\/doi.org\/10.1159\/000358698)"},{"key":"bib82","series-title":"J Clin Endocrinol Metab","first-page":"E2006","article-title":"Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome","volume":"98","author":"Louwers YV","year":"2013","unstructured":"Louwers YV\n, \nStolk L\n, \nUitterlinden AG\n, et al.\n 2013 Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome. J Clin Endocrinol Metab 98 E2006\u2013E2012. (https:\/\/doi.org\/10.1210\/jc.2013-2495)"},{"key":"bib83","series-title":"Gynecol Obstet Invest","first-page":"23","article-title":"Familial clustering in the polycystic ovarian syndrome","volume":"28","author":"Lunde O","year":"1989","unstructured":"Lunde O\n, \nMagnus P\n, \nSandvik L\n, et al.\n 1989 Familial clustering in the polycystic ovarian syndrome. Gynecol Obstet Invest 28 23\u201330. (https:\/\/doi.org\/10.1159\/000293493)"},{"key":"bib84","series-title":"Nat Genet","first-page":"1534","article-title":"Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes","volume":"53","author":"Mansour Aly D","year":"2021","unstructured":"Mansour Aly D\n, \nDwivedi OP\n, \nPrasad RB\n, et al.\n 2021 Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes. Nat Genet 53 1534\u20131542. (https:\/\/doi.org\/10.1038\/s41588-021-00948-2)"},{"key":"bib85","series-title":"Am J Hum Genet","first-page":"1558","article-title":"The omnigenic model and polygenic prediction of complex traits","volume":"108","author":"Mathieson I","year":"2021","unstructured":"Mathieson I\n\n 2021 The omnigenic model and polygenic prediction of complex traits. Am J Hum Genet 108 1558\u20131563. (https:\/\/doi.org\/10.1016\/j.ajhg.2021.07.003)"},{"key":"bib86","series-title":"Proc Natl Acad Sci U S A","first-page":"E1519","article-title":"Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype","volume":"111","author":"McAllister JM","year":"2014","unstructured":"McAllister JM\n, \nModi B\n, \nMiller BA\n, et al.\n 2014 Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype. Proc Natl Acad Sci U S A 111 E1519\u2013E1527. (https:\/\/doi.org\/10.1073\/pnas.1400574111)"},{"key":"bib87","series-title":"Mol Hum Reprod","article-title":"Functional analysis of rare anti-Mullerian hormone protein-altering variants identified in women with PCOS","volume":"29","author":"Meng L","year":"2023","unstructured":"Meng L\n, \nMcLuskey A\n, \nDunaif A\n, et al.\n 2023 Functional analysis of rare anti-Mullerian hormone protein-altering variants identified in women with PCOS. Mol Hum Reprod 29 gaad011. (https:\/\/doi.org\/10.1093\/molehr\/gaad011)"},{"key":"bib88","series-title":"Cell Metab","first-page":"513","article-title":"Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process","volume":"33","author":"Mimouni NEH","year":"2021","unstructured":"Mimouni NEH\n, \nPaiva I\n, \nBarbotin AL\n, et al.\n 2021 Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process. Cell Metab 33 513\u2013530 e8. (https:\/\/doi.org\/10.1016\/j.cmet.2021.01.004)"},{"key":"bib89","series-title":"Commun Med","first-page":"138","article-title":"Precision subclassification of type 2 diabetes: a systematic review","volume":"3","author":"Misra S","year":"2023","unstructured":"Misra S\n, \nWagner R\n, \nOzkan B\n, et al.\n 2023 Precision subclassification of type 2 diabetes: a systematic review. Commun Med 3 138. (https:\/\/doi.org\/10.1038\/s43856-023-00360-3)"},{"key":"bib90","series-title":"Hum Reprod","first-page":"1544","article-title":"Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients","volume":"37","author":"Moolhuijsen LME","year":"2022","unstructured":"Moolhuijsen LME\n, \nLouwers YV\n, \nMcLuskey A\n, et al.\n 2022 Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients. Hum Reprod 37 1544\u20131556. (https:\/\/doi.org\/10.1093\/humrep\/deac082)"},{"key":"bib160","series-title":"medRxiv","article-title":"Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome","author":"Moolhuijsen LME","year":"2024","unstructured":"Moolhuijsen LME\n, \nZhu J\n, \nMullin BH\n, et al\n. 2024 Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome. medRxiv. (https:\/\/doi.org\/10.1101\/2024.04.18.24306020)"},{"key":"bib91","series-title":"Reprod Biol Endocrinol","first-page":"10","article-title":"Non-coding RNAs in polycystic ovary syndrome: a systematic review and meta-analysis","volume":"19","author":"Mu L","year":"2021","unstructured":"Mu L\n, \nSun X\n, \nTu M\n, et al.\n 2021 Non-coding RNAs in polycystic ovary syndrome: a systematic review and meta-analysis. Reprod Biol Endocrinol 19 10. (https:\/\/doi.org\/10.1186\/s12958-020-00687-9)"},{"key":"bib92","series-title":"J Clin Endocrinol Metab","first-page":"E185","article-title":"Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry","volume":"98","author":"Mutharasan P","year":"2013","unstructured":"Mutharasan P\n, \nGaldones E\n, \nPenalver Bernabe B\n, et al.\n 2013 Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry. J Clin Endocrinol Metab 98 E185\u2013E190. (https:\/\/doi.org\/10.1210\/jc.2012-2471)"},{"key":"bib93","series-title":"Epigenetics","first-page":"875","article-title":"Environmental toxicant induced epigenetic transgenerational inheritance of ovarian pathology and granulosa cell epigenome and transcriptome alterations: ancestral origins of polycystic ovarian syndrome and primary ovarian insufiency","volume":"13","author":"Nilsson E","year":"2018","unstructured":"Nilsson E\n, \nKlukovich R\n, \nSadler-Riggleman I\n, et al.\n 2018 Environmental toxicant induced epigenetic transgenerational inheritance of ovarian pathology and granulosa cell epigenome and transcriptome alterations: ancestral origins of polycystic ovarian syndrome and primary ovarian insufiency. Epigenetics 13 875\u2013895. (https:\/\/doi.org\/10.1080\/15592294.2018.1521223)"},{"key":"bib94","series-title":"Fertil Steril","first-page":"1774","article-title":"Evaluating reported candidate gene associations with polycystic ovary syndrome","volume":"99","author":"Pau C","year":"2013","unstructured":"Pau C\n, \nSaxena R\n & \nWelt CK\n\n 2013 Evaluating reported candidate gene associations with polycystic ovary syndrome. Fertil Steril 99 1774\u20131778. (https:\/\/doi.org\/10.1016\/j.fertnstert.2012.12.033)"},{"key":"bib95","series-title":"Hum Reprod","first-page":"938","article-title":"Changes in circulating forms of anti-Muullerian hormone and androgens in women with and without PCOS: a systematic longitudinal study throughout pregnancy","volume":"38","author":"Peigne M","year":"2023","unstructured":"Peigne M\n, \nSimon V\n, \nPigny P\n, et al.\n 2023 Changes in circulating forms of anti-Muullerian hormone and androgens in women with and without PCOS: a systematic longitudinal study throughout pregnancy. Hum Reprod 38 938\u2013950. (https:\/\/doi.org\/10.1093\/humrep\/dead050)"},{"key":"bib96","series-title":"Mol Hum Reprod","first-page":"829","article-title":"Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries","volume":"15","author":"Prodoehl MJ","year":"2009","unstructured":"Prodoehl MJ\n, \nHatzirodos N\n, \nIrving-Rodgers HF\n, et al.\n 2009 Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries. Mol Hum Reprod 15 829\u2013841. (https:\/\/doi.org\/10.1093\/molehr\/gap072)"},{"key":"bib97","series-title":"Endocrine","first-page":"287","article-title":"Variation analysis of anti-Mullerian hormone gene in Chinese women with polycystic ovary syndrome","volume":"72","author":"Qin L","year":"2020","unstructured":"Qin L\n, \nZhao S\n, \nYang P\n, et al.\n 2020 Variation analysis of anti-Mullerian hormone gene in Chinese women with polycystic ovary syndrome. Endocrine 72 287\u2013293. (https:\/\/doi.org\/10.1007\/s12020-020-02538-4)"},{"key":"bib98","series-title":"Heliyon","article-title":"Bioinformatics analysis of the role of RNA modification regulators in polycystic ovary syndrome","volume":"10","author":"Quan K","year":"2024","unstructured":"Quan K\n, \nNing S\n, \nYou Z\n, et al.\n 2024 Bioinformatics analysis of the role of RNA modification regulators in polycystic ovary syndrome. Heliyon 10 e36706. (https:\/\/doi.org\/10.1016\/j.heliyon.2024.e36706)"},{"key":"bib99","series-title":"Mol Hum Reprod","article-title":"Role of genomic DNA methylation in PCOS pathogenesis: a systematic review and meta-analysis involving case-controlled clinical studies","volume":"28","author":"Rawat K","year":"2022","unstructured":"Rawat K\n, \nSandhu A\n, \nGautam V\n, et al.\n 2022 Role of genomic DNA methylation in PCOS pathogenesis: a systematic review and meta-analysis involving case-controlled clinical studies. Mol Hum Reprod 28 gaac024. (https:\/\/doi.org\/10.1093\/molehr\/gaac024)"},{"key":"bib100","series-title":"J Clin Endocrinol Metab","first-page":"3318","article-title":"Pituitary and testicular function in sons of women with polycystic ovary syndrome from infancy to adulthood","volume":"93","author":"Recabarren SE","year":"2008","unstructured":"Recabarren SE\n, \nSir-Petermann T\n, \nRios R\n, et al.\n 2008 Pituitary and testicular function in sons of women with polycystic ovary syndrome from infancy to adulthood. J Clin Endocrinol Metab 93 3318\u20133324. (https:\/\/doi.org\/10.1210\/jc.2008-0255)"},{"key":"bib101","series-title":"Curr Neurol Neurosci Rep","first-page":"499","article-title":"Genetic heterogeneity in Alzheimer disease and implications for treatment strategies","volume":"14","author":"Ringman JM","year":"2014","unstructured":"Ringman JM\n, \nGoate A\n, \nMasters CL\n, et al.\n 2014 Genetic heterogeneity in Alzheimer disease and implications for treatment strategies. Curr Neurol Neurosci Rep 14 499. (https:\/\/doi.org\/10.1007\/s11910-014-0499-8)"},{"key":"bib102","series-title":"Nat Med","first-page":"1894","article-title":"Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome","volume":"25","author":"Risal S","year":"2019","unstructured":"Risal S\n, \nPei Y\n, \nLu H\n, et al.\n 2019 Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome. Nat Med 25 1894\u20131904. (https:\/\/doi.org\/10.1038\/s41591-019-0666-1)"},{"key":"bib103","series-title":"Cell Rep Med","article-title":"Transgenerational transmission of reproductive and metabolic dysfunction in the male progeny of polycystic ovary syndrome","volume":"4","author":"Risal S","year":"2023","unstructured":"Risal S\n, \nLi C\n, \nLuo Q\n, et al.\n 2023 Transgenerational transmission of reproductive and metabolic dysfunction in the male progeny of polycystic ovary syndrome. Cell Rep Med 4 101035. (https:\/\/doi.org\/10.1016\/j.xcrm.2023.101035)"},{"key":"bib104","series-title":"J Endocrinol","first-page":"213","article-title":"Prenatal androgen exposure programs metabolic dysfunction in female mice","volume":"207","author":"Roland AV","year":"2010","unstructured":"Roland AV\n, \nNunemaker CS\n, \nKeller SR\n, et al.\n 2010 Prenatal androgen exposure programs metabolic dysfunction in female mice. J Endocrinol 207 213\u2013223. (https:\/\/doi.org\/10.1677\/joe-10-0217)"},{"key":"bib105","series-title":"J Clin Endocrinol Metab","first-page":"3848","article-title":"Development and risk factors of type 2 diabetes in a nationwide population of women with polycystic ovary syndrome","volume":"102","author":"Rubin KH","year":"2017","unstructured":"Rubin KH\n, \nGlintborg D\n, \nNybo M\n, et al.\n 2017 Development and risk factors of type 2 diabetes in a nationwide population of women with polycystic ovary syndrome. J Clin Endocrinol Metab 102 3848\u20133857. (https:\/\/doi.org\/10.1210\/jc.2017-01354)"},{"key":"bib106","series-title":"Clin Epigenetics","first-page":"61","article-title":"DNA methylome profiling of granulosa cells reveals altered methylation in genes regulating vital ovarian functions in polycystic ovary syndrome","volume":"11","author":"Sagvekar P","year":"2019","unstructured":"Sagvekar P\n, \nKumar P\n, \nMangoli V\n, et al.\n 2019 DNA methylome profiling of granulosa cells reveals altered methylation in genes regulating vital ovarian functions in polycystic ovary syndrome. Clin Epigenetics 11 61. (https:\/\/doi.org\/10.1186\/s13148-019-0657-6)"},{"key":"bib107","series-title":"Proc Natl Acad Sci U S A","first-page":"7030","article-title":"Evidence for metabolic and reproductive phenotypes in mothers of women with polycystic ovary syndrome","volume":"103","author":"Sam S","year":"2006","unstructured":"Sam S\n, \nLegro RS\n, \nEssah PA\n, et al.\n 2006 Evidence for metabolic and reproductive phenotypes in mothers of women with polycystic ovary syndrome. Proc Natl Acad Sci U S A 103 7030\u20137035. (https:\/\/doi.org\/10.1073\/pnas.0602025103)"},{"key":"bib108","series-title":"Am J Epidemiol","first-page":"706","article-title":"Biased tests of association: comparisons of allele frequencies when departing from Hardy-Weinberg proportions","volume":"149","author":"Schaid DJ","year":"1999","unstructured":"Schaid DJ\n & \nJacobsen SJ\n\n 1999 Biased tests of association: comparisons of allele frequencies when departing from Hardy-Weinberg proportions. Am J Epidemiol 149 706\u2013711. (https:\/\/doi.org\/10.1093\/oxfordjournals.aje.a009878)"},{"key":"bib109","series-title":"Front Endocrinol","article-title":"Causal relationship between fertility nutrients supplementation and PCOS risk: a Mendelian randomization study","volume":"15","author":"Shao F","year":"2024","unstructured":"Shao F\n, \nXu S\n, \nZhao H\n, et al.\n 2024 Causal relationship between fertility nutrients supplementation and PCOS risk: a Mendelian randomization study. Front Endocrinol 15 1420004. (https:\/\/doi.org\/10.3389\/fendo.2024.1420004)"},{"key":"bib110","series-title":"Gene","article-title":"Genetic variants of metabolism and inflammatory pathways, and PCOS risk -systematic review, meta-analysis, and in-silico analysis","volume":"888","author":"Sharma P","year":"2023a","unstructured":"Sharma P\n, \nBhatia K\n, \nSingh Kapoor H\n, et al.\n 2023a Genetic variants of metabolism and inflammatory pathways, and PCOS risk -systematic review, meta-analysis, and in-silico analysis. Gene 888 147796. (https:\/\/doi.org\/10.1016\/j.gene.2023.147796)"},{"key":"bib111","series-title":"J Hum Reprod Sci","first-page":"307","article-title":"Whole exome sequencing reveals rare variants in genes associated with metabolic disorders in women with PCOS","volume":"16","author":"Sharma P","year":"2023b","unstructured":"Sharma P\n, \nHalder A\n, \nJain M\n, et al.\n 2023b Whole exome sequencing reveals rare variants in genes associated with metabolic disorders in women with PCOS. J Hum Reprod Sci 16 307\u2013316. (https:\/\/doi.org\/10.4103\/jhrs.jhrs_13_23)"},{"key":"bib112","series-title":"Metab Syndr Relat Disord","first-page":"15","article-title":"Genetic variants of steroidogenesis and gonadotropin pathways and polycystic ovary syndrome susceptibility: a systematic review and meta-analysis","volume":"22","author":"Sharma P","year":"2024","unstructured":"Sharma P\n, \nKumar Singh A\n, \nSenapati S\n, et al.\n 2024 Genetic variants of steroidogenesis and gonadotropin pathways and polycystic ovary syndrome susceptibility: a systematic review and meta-analysis. Metab Syndr Relat Disord 22 15\u201326. (https:\/\/doi.org\/10.1089\/met.2023.0127)"},{"key":"bib113","series-title":"BMJ","article-title":"Amstar 2: a critical appraisal tool for systematic reviews that include randomised or non-randomised studies of healthcare interventions, or both","volume":"358","author":"Shea BJ","year":"2017","unstructured":"Shea BJ\n, \nReeves BC\n, \nWells G\n, et al.\n 2017 Amstar 2: a critical appraisal tool for systematic reviews that include randomised or non-randomised studies of healthcare interventions, or both. BMJ 358 j4008. (https:\/\/doi.org\/10.1136\/bmj.j4008)"},{"key":"bib114","series-title":"Am J Reprod Immunol","first-page":"421","article-title":"Bone morphogenetic protein-2 (BMP-2) increases gene expression of FSH receptor and aromatase and decreases gene expression of LH receptor and StAR in human granulosa cells","volume":"65","author":"Shi J","year":"2011","unstructured":"Shi J\n, \nYoshino O\n, \nOsuga Y\n, et al.\n 2011 Bone morphogenetic protein-2 (BMP-2) increases gene expression of FSH receptor and aromatase and decreases gene expression of LH receptor and StAR in human granulosa cells. Am J Reprod Immunol 65 421\u2013427. (https:\/\/doi.org\/10.1111\/j.1600-0897.2010.00917.x)"},{"key":"bib115","series-title":"Nat Genet","first-page":"1020","article-title":"Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome","volume":"44","author":"Shi Y","year":"2012","unstructured":"Shi Y\n, \nZhao H\n, \nShi Y\n, et al.\n 2012 Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet 44 1020\u20131025. (https:\/\/doi.org\/10.1038\/ng.2384)"},{"key":"bib116","series-title":"Biol Reprod","first-page":"1045","article-title":"Developmental programming: prenatal testosterone-induced epigenetic modulation and its effect on gene expression in sheep ovary\u2020","volume":"102","author":"Sinha N","year":"2020","unstructured":"Sinha N\n, \nRoy S\n, \nHuang B\n, et al.\n 2020 Developmental programming: prenatal testosterone-induced epigenetic modulation and its effect on gene expression in sheep ovary\u2020. Biol Reprod 102 1045\u20131054. (https:\/\/doi.org\/10.1093\/biolre\/ioaa007)"},{"key":"bib117","series-title":"Diabetologia","first-page":"959","article-title":"Prevalence of type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome","volume":"45","author":"Sir-Petermann T","year":"2002","unstructured":"Sir-Petermann T\n, \nAngel B\n, \nMaliqueo M\n, et al.\n 2002 Prevalence of type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome. Diabetologia 45 959\u2013964. (https:\/\/doi.org\/10.1007\/s00125-002-0836-3)"},{"key":"bib118","series-title":"J Clin Endocrinol Metab","first-page":"3105","article-title":"Increased anti-Mullerian hormone serum concentrations in prepubertal daughters of women with polycystic ovary syndrome","volume":"91","author":"Sir-Petermann T","year":"2006","unstructured":"Sir-Petermann T\n, \nCodner E\n, \nMaliqueo M\n, et al.\n 2006 Increased anti-Mullerian hormone serum concentrations in prepubertal daughters of women with polycystic ovary syndrome. J Clin Endocrinol Metab 91 3105\u20133109. (https:\/\/doi.org\/10.1210\/jc.2005-2693)"},{"key":"bib119","series-title":"Metabolism","first-page":"1568","article-title":"Absence of insulin receptor gene mutations in three insulin-resistant women with the polycystic ovary syndrome","volume":"43","author":"Sorbara LR","year":"1994","unstructured":"Sorbara LR\n, \nTang Z\n, \nCama A\n, et al.\n 1994 Absence of insulin receptor gene mutations in three insulin-resistant women with the polycystic ovary syndrome. Metabolism 43 1568\u20131574. (https:\/\/doi.org\/10.1016\/0026-0495(94)90018-3)"},{"key":"bib120","series-title":"J Clin Endocrinol Metab","first-page":"968","article-title":"Polycystic ovary syndrome physiologic pathways implicated through clustering of genetic loci","volume":"109","author":"Stamou MI","year":"2024","unstructured":"Stamou MI\n, \nSmith KT\n, \nKim H\n, et al.\n 2024 Polycystic ovary syndrome physiologic pathways implicated through clustering of genetic loci. J Clin Endocrinol Metab 109 968\u2013977. (https:\/\/doi.org\/10.1210\/clinem\/dgad664)"},{"key":"bib121","series-title":"Lancet Diabetes Endocrinol","first-page":"426","article-title":"Metabolic health and cardiometabolic risk clusters: implications for prediction, prevention, and treatment","volume":"11","author":"Stefan N","year":"2023","unstructured":"Stefan N\n & \nSchulze MB\n\n 2023 Metabolic health and cardiometabolic risk clusters: implications for prediction, prevention, and treatment. Lancet Diabetes Endocrinol 11 426\u2013440. (https:\/\/doi.org\/10.1016\/s2213-8587(23)00086-4)"},{"key":"bib122","series-title":"Nat Rev Endocrinol","first-page":"521","article-title":"Epigenetic inheritance of polycystic ovary syndrome \u2013 challenges and opportunities for treatment","volume":"17","author":"Stener-Victorin E","year":"2021","unstructured":"Stener-Victorin E\n & \nDeng Q\n\n 2021 Epigenetic inheritance of polycystic ovary syndrome \u2013 challenges and opportunities for treatment. Nat Rev Endocrinol 17 521\u2013533. (https:\/\/doi.org\/10.1038\/s41574-021-00517-x)"},{"key":"bib123","series-title":"J Clin Endocrinol Metab","first-page":"4112","article-title":"Fine mapping of genetic susceptibility to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity","volume":"91","author":"Stewart DR","year":"2006","unstructured":"Stewart DR\n, \nDombroski B\n, \nUrbanek M\n, et al.\n 2006 Fine mapping of genetic susceptibility to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity. J Clin Endocrinol Metab 91 4112\u20134117. (https:\/\/doi.org\/10.1210\/jc.2006-0951)"},{"key":"bib124","series-title":"Metabolism","first-page":"197","article-title":"Insulin resistance with acanthosis nigricans: the roles of obesity and androgen excess","volume":"35","author":"Stuart CA","year":"1986","unstructured":"Stuart CA\n, \nPeters EJ\n, \nPrince MJ\n, et al.\n 1986 Insulin resistance with acanthosis nigricans: the roles of obesity and androgen excess. Metabolism 35 197\u2013205. (https:\/\/doi.org\/10.1016\/0026-0495(86)90201-5)"},{"key":"bib125","series-title":"Annu Rev Med","first-page":"163","article-title":"Omics and cardiometabolic disease risk prediction","volume":"71","author":"Tahir UA","year":"2020","unstructured":"Tahir UA\n & \nGerszten RE\n\n 2020 Omics and cardiometabolic disease risk prediction. Annu Rev Med 71 163\u2013175. (https:\/\/doi.org\/10.1146\/annurev-med-042418-010924)"},{"key":"bib126","series-title":"Nat Med","first-page":"834","article-title":"Elevated prenatal anti-Mullerian hormone reprograms the fetus and induces polycystic ovary syndrome in adulthood","volume":"24","author":"Tata B","year":"2018","unstructured":"Tata B\n, \nMimouni NEH\n, \nBarbotin AL\n, et al.\n 2018 Elevated prenatal anti-Mullerian hormone reprograms the fetus and induces polycystic ovary syndrome in adulthood. Nat Med 24 834\u2013846. (https:\/\/doi.org\/10.1038\/s41591-018-0035-5)"},{"key":"bib127","series-title":"Endocr Rev","first-page":"566","article-title":"Mutations in the insulin receptor gene","volume":"13","author":"Taylor SI","year":"1992","unstructured":"Taylor SI\n, \nCama A\n, \nAccili D\n, et al.\n 1992 Mutations in the insulin receptor gene. Endocr Rev 13 566\u2013595. (https:\/\/doi.org\/10.1210\/edrv-13-3-566)"},{"key":"bib128","series-title":"Mol Cell Endocrinol","first-page":"25","article-title":"Alternative splicing of DENND1A, a PCOS candidate gene, generates variant 2","volume":"434","author":"Tee MK","year":"2016","unstructured":"Tee MK\n, \nSpeek M\n, \nLegeza B\n, et al.\n 2016 Alternative splicing of DENND1A, a PCOS candidate gene, generates variant 2. Mol Cell Endocrinol 434 25\u201335. (https:\/\/doi.org\/10.1016\/j.mce.2016.06.011)"},{"key":"bib129","series-title":"J Clin Endocrinol Metab","first-page":"3855","article-title":"Persistent apparent pancreatic beta-cell defects in premenarchal PCOS relatives","volume":"99","author":"Torchen LC","year":"2014","unstructured":"Torchen LC\n, \nFogel NR\n, \nBrickman WJ\n, et al.\n 2014 Persistent apparent pancreatic beta-cell defects in premenarchal PCOS relatives. J Clin Endocrinol Metab 99 3855\u20133862. (https:\/\/doi.org\/10.1210\/jc.2014-1474)"},{"key":"bib130","series-title":"Fertil Steril","first-page":"50","article-title":"Increased antimullerian hormone levels and other reproductive endocrine changes in adult male relatives of women with polycystic ovary syndrome","volume":"106","author":"Torchen LC","year":"2016","unstructured":"Torchen LC\n, \nKumar A\n, \nKalra B\n, et al.\n 2016 Increased antimullerian hormone levels and other reproductive endocrine changes in adult male relatives of women with polycystic ovary syndrome. Fertil Steril 106 50\u201355. (https:\/\/doi.org\/10.1016\/j.fertnstert.2016.03.029)"},{"key":"bib131","series-title":"J Clin Endocrinol Metab","first-page":"3355","article-title":"Distinctive reproductive phenotypes in peripubertal girls at risk for polycystic ovary syndrome","volume":"104","author":"Torchen LC","year":"2019","unstructured":"Torchen LC\n, \nLegro RS\n & \nDunaif A\n\n 2019 Distinctive reproductive phenotypes in peripubertal girls at risk for polycystic ovary syndrome. J Clin Endocrinol Metab 104 3355\u20133361. (https:\/\/doi.org\/10.1210\/jc.2018-02313)"},{"key":"bib132","series-title":"Int J Mol Sci","first-page":"3205","article-title":"Serum expression of miR-23a-3p and miR-424-5p indicate specific polycystic ovary syndrome phenotypes: a pilot study","volume":"25","author":"Trummer O","year":"2024","unstructured":"Trummer O\n, \nHoeller J\n, \nReintar S\n, et al.\n 2024 Serum expression of miR-23a-3p and miR-424-5p indicate specific polycystic ovary syndrome phenotypes: a pilot study. Int J Mol Sci 25 3205. (https:\/\/doi.org\/10.3390\/ijms25063205)"},{"key":"bib133","series-title":"J Clin Endocrinol Metab","first-page":"446","article-title":"Evidence for association of polycystic ovary syndrome in Caucasian women with a marker at the insulin receptor gene locus","volume":"86","author":"Tucci S","year":"2001","unstructured":"Tucci S\n, \nFutterweit W\n, \nConcepcion ES\n, et al.\n 2001 Evidence for association of polycystic ovary syndrome in Caucasian women with a marker at the insulin receptor gene locus. J Clin Endocrinol Metab 86 446\u2013449. (https:\/\/doi.org\/10.1210\/jcem.86.1.7274)"},{"key":"bib134","series-title":"Hum Reprod","first-page":"352","article-title":"Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome","volume":"37","author":"Tyrmi JS","year":"2022","unstructured":"Tyrmi JS\n, \nArffman RK\n, \nPujol-Gualdo N\n, et al.\n 2022 Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome. Hum Reprod 37 352\u2013365. (https:\/\/doi.org\/10.1093\/humrep\/deab250)"},{"key":"bib135","series-title":"PLoS Med","article-title":"Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: a soft clustering analysis","volume":"15","author":"Udler MS","year":"2018","unstructured":"Udler MS\n, \nKim J\n, \nvon Grotthuss M\n, et al.\n 2018 Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: a soft clustering analysis. PLoS Med 15 e1002654. (https:\/\/doi.org\/10.1371\/journal.pmed.1002654)"},{"key":"bib136","series-title":"Proc Natl Acad Sci U S A","first-page":"8573","article-title":"Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin","volume":"96","author":"Urbanek M","year":"1999","unstructured":"Urbanek M\n, \nLegro RS\n, \nDriscoll DA\n, et al.\n 1999 Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proc Natl Acad Sci U S A 96 8573\u20138578. (https:\/\/doi.org\/10.1073\/pnas.96.15.8573)"},{"key":"bib137","series-title":"J Clin Endocrinol Metab","first-page":"6623","article-title":"Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2","volume":"90","author":"Urbanek M","year":"2005","unstructured":"Urbanek M\n, \nWoodroffe A\n, \nEwens KG\n, et al.\n 2005 Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2. J Clin Endocrinol Metab 90 6623\u20136629. (https:\/\/doi.org\/10.1210\/jc.2005-0622)"},{"key":"bib138","series-title":"J Clin Endocrinol Metab","first-page":"4191","article-title":"Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype","volume":"92","author":"Urbanek M","year":"2007","unstructured":"Urbanek M\n, \nSam S\n, \nLegro RS\n, et al.\n 2007 Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype. J Clin Endocrinol Metab 92 4191\u20134198. (https:\/\/doi.org\/10.1210\/jc.2007-0761)"},{"key":"bib139","series-title":"J Clin Endocrinol Metab","first-page":"3096","article-title":"Clustering identifies subtypes with different phenotypic characteristics in women with polycystic ovary syndrome","volume":"109","author":"van der Ham K","year":"2024","unstructured":"van der Ham K\n, \nMoolhuijsen LME\n, \nBrewer K\n, et al.\n 2024 Clustering identifies subtypes with different phenotypic characteristics in women with polycystic ovary syndrome. J Clin Endocrinol Metab 109 3096\u20133107. (https:\/\/doi.org\/10.1210\/clinem\/dgae298)"},{"key":"bib140","series-title":"Lancet Diabetes Endocrinol","first-page":"635","article-title":"Achieving replicable subphenotypes of adult-onset diabetes","volume":"11","author":"Varghese JS","year":"2023","unstructured":"Varghese JS\n, \nCarrillo-Larco RM\n & \nNarayan KV\n\n 2023 Achieving replicable subphenotypes of adult-onset diabetes. Lancet Diabetes Endocrinol 11 635\u2013636. (https:\/\/doi.org\/10.1016\/s2213-8587(23)00195-x)"},{"key":"bib141","series-title":"J Clin Endocrinol Metab","first-page":"2100","article-title":"Heritability of polycystic ovary syndrome in a Dutch twin-family study","volume":"91","author":"Vink JM","year":"2006","unstructured":"Vink JM\n, \nSadrzadeh S\n, \nLambalk CB\n, et al.\n 2006 Heritability of polycystic ovary syndrome in a Dutch twin-family study. J Clin Endocrinol Metab 91 2100\u20132104. (https:\/\/doi.org\/10.1210\/jc.2005-1494)"},{"key":"bib142","series-title":"Nat Rev Genet","first-page":"255","article-title":"Heritability in the genomics era \u2013 concepts and misconceptions","volume":"9","author":"Visscher PM","year":"2008","unstructured":"Visscher PM\n, \nHill WG\n & \nWray NR\n\n 2008 Heritability in the genomics era \u2013 concepts and misconceptions. Nat Rev Genet 9 255\u2013266. (https:\/\/doi.org\/10.1038\/nrg2322)"},{"key":"bib143","series-title":"Am J Hum Genet","first-page":"5","article-title":"10 years of GWAS discovery: biology, function, and translation","volume":"101","author":"Visscher PM","year":"2017","unstructured":"Visscher PM\n, \nWray NR\n, \nZhang Q\n, et al.\n 2017 10 years of GWAS discovery: biology, function, and translation. Am J Hum Genet 101 5\u201322. (https:\/\/doi.org\/10.1016\/j.ajhg.2017.06.005)"},{"key":"bib144","series-title":"Science","first-page":"1468","article-title":"Discovery and implications of polygenicity of common diseases","volume":"373","author":"Visscher PM","year":"2021","unstructured":"Visscher PM\n, \nYengo L\n, \nCox NJ\n, et al.\n 2021 Discovery and implications of polygenicity of common diseases. Science 373 1468\u20131473. (https:\/\/doi.org\/10.1126\/science.abi8206)"},{"key":"bib145","series-title":"Curr Opin Neurol","first-page":"727","article-title":"Clinical subtypes and genetic heterogeneity: of lumping and splitting in Parkinson disease","volume":"29","author":"von Coelln R","year":"2016","unstructured":"von Coelln R\n & \nShulman LM\n\n 2016 Clinical subtypes and genetic heterogeneity: of lumping and splitting in Parkinson disease. Curr Opin Neurol 29 727\u2013734. (https:\/\/doi.org\/10.1097\/wco.0000000000000384)"},{"key":"bib146","series-title":"Trends Genet","first-page":"468","article-title":"Mendelian randomization analyses for PCOS: evidence, opportunities, and challenges","volume":"38","author":"Wang C","year":"2022","unstructured":"Wang C\n, \nWu W\n, \nYang H\n, et al.\n 2022 Mendelian randomization analyses for PCOS: evidence, opportunities, and challenges. Trends Genet 38 468\u2013482. (https:\/\/doi.org\/10.1016\/j.tig.2022.01.005)"},{"key":"bib147","series-title":"Hum Reprod","first-page":"ii69","article-title":"Deciphering the DNA methylome in women with PCOS diagnosed using the new international evidence-based guidelines","volume":"38","author":"Wang Y","year":"2023","unstructured":"Wang Y\n, \nGao X\n, \nYang Z\n, et al.\n 2023 Deciphering the DNA methylome in women with PCOS diagnosed using the new international evidence-based guidelines. Hum Reprod 38 (Supplement 2) ii69\u2013ii79. (https:\/\/doi.org\/10.1093\/humrep\/dead191)"},{"key":"bib148","series-title":"Am J Hum Genet","first-page":"125","article-title":"Inheritance of low erythrocyte catechol-o-methyltransferase activity in man","volume":"29","author":"Weinshilboum RM","year":"1977","unstructured":"Weinshilboum RM\n & \nRaymond FA\n\n 1977 Inheritance of low erythrocyte catechol-o-methyltransferase activity in man. Am J Hum Genet 29 125\u2013135."},{"key":"bib149","series-title":"Int J Environ Res Public Health","first-page":"2589","article-title":"Geographical prevalence of polycystic ovary syndrome as determined by region and race\/ethnicity","volume":"15","author":"Wolf WM","year":"2018","unstructured":"Wolf WM\n, \nWattick RA\n, \nKinkade ON\n, et al.\n 2018 Geographical prevalence of polycystic ovary syndrome as determined by region and race\/ethnicity. Int J Environ Res Public Health 15 2589. (https:\/\/doi.org\/10.3390\/ijerph15112589)"},{"key":"bib150","series-title":"J Clin Endocrinol Metab","first-page":"E2754","article-title":"The expression of the miR-25\/93\/106b family of micro-RNAs in the adipose tissue of women with polycystic ovary syndrome","volume":"99","author":"Wu HL","year":"2014","unstructured":"Wu HL\n, \nHeneidi S\n, \nChuang TY\n, et al.\n 2014 The expression of the miR-25\/93\/106b family of micro-RNAs in the adipose tissue of women with polycystic ovary syndrome. J Clin Endocrinol Metab 99 E2754\u2013E2761. (https:\/\/doi.org\/10.1210\/jc.2013-4435)"},{"key":"bib151","series-title":"Mol Endocrinol","first-page":"1329","article-title":"Early embryonic androgen exposure induces transgenerational epigenetic and metabolic changes","volume":"28","author":"Xu N","year":"2014","unstructured":"Xu N\n, \nChua AK\n, \nJiang H\n, et al.\n 2014 Early embryonic androgen exposure induces transgenerational epigenetic and metabolic changes. Mol Endocrinol 28 1329\u20131336. (https:\/\/doi.org\/10.1210\/me.2014-1042)"},{"key":"bib152","series-title":"Nat Genet","first-page":"565","article-title":"Common SNPs explain a large proportion of the heritability for human height","volume":"42","author":"Yang J","year":"2010","unstructured":"Yang J\n, \nBenyamin B\n, \nMcEvoy BP\n, et al.\n 2010 Common SNPs explain a large proportion of the heritability for human height. Nat Genet 42 565\u2013569. (https:\/\/doi.org\/10.1038\/ng.608)"},{"key":"bib153","series-title":"J Clin Endocrinol Metab","first-page":"2031","article-title":"Glucose intolerance, insulin resistance, and hyperandrogenemia in first degree relatives of women with polycystic ovary syndrome","volume":"88","author":"Yildiz BO","year":"2003","unstructured":"Yildiz BO\n, \nYarali H\n, \nOguz H\n, et al.\n 2003 Glucose intolerance, insulin resistance, and hyperandrogenemia in first degree relatives of women with polycystic ovary syndrome. J Clin Endocrinol Metab 88 2031\u20132036. (https:\/\/doi.org\/10.1210\/jc.2002-021499)"},{"key":"bib154","series-title":"Hum Reprod","first-page":"3067","article-title":"Prevalence, phenotype and cardiometabolic risk of polycystic ovary syndrome under different diagnostic criteria","volume":"27","author":"Yildiz BO","year":"2012","unstructured":"Yildiz BO\n, \nBozdag G\n, \nYapici Z\n, et al.\n 2012 Prevalence, phenotype and cardiometabolic risk of polycystic ovary syndrome under different diagnostic criteria. Hum Reprod 27 3067\u20133073. (https:\/\/doi.org\/10.1093\/humrep\/des232)"},{"key":"bib155","series-title":"Hum Genet","first-page":"1655","article-title":"Heritability in the genome-wide association era","volume":"131","author":"Zaitlen N","year":"2012","unstructured":"Zaitlen N\n & \nKraft P\n\n 2012 Heritability in the genome-wide association era. Hum Genet 131 1655\u20131664. (https:\/\/doi.org\/10.1007\/s00439-012-1199-6)"},{"key":"bib156","series-title":"Am J Obstet Gynecol","first-page":"559 e1","article-title":"A genome-wide association study of polycystic ovary syndrome identified from electronic health records","volume":"223","author":"Zhang Y","year":"2020","unstructured":"Zhang Y\n, \nHo K\n, \nKeaton JM\n, et al.\n 2020 A genome-wide association study of polycystic ovary syndrome identified from electronic health records. Am J Obstet Gynecol 223 559 e1\u2013559 e21. (https:\/\/doi.org\/10.1016\/j.ajog.2020.04.004)"},{"key":"bib157","series-title":"Int J Gynaecol Obstet","first-page":"198","article-title":"Mendelian randomization study investigating the relationship between nutrients and polycystic ovary syndrome","volume":"169","author":"Zhang Y","year":"2024","unstructured":"Zhang Y\n, \nGuo J\n & \nZhang N\n\n 2024 Mendelian randomization study investigating the relationship between nutrients and polycystic ovary syndrome. Int J Gynaecol Obstet 169 198\u2013205. (https:\/\/doi.org\/10.1002\/ijgo.16029)"},{"key":"bib158","series-title":"Front Genet","article-title":"Multiomics analysis reveals molecular abnormalities in granulosa cells of women with polycystic ovary syndrome","volume":"12","author":"Zhao R","year":"2021","unstructured":"Zhao R\n, \nJiang Y\n, \nZhao S\n, et al.\n 2021 Multiomics analysis reveals molecular abnormalities in granulosa cells of women with polycystic ovary syndrome. Front Genet 12 648701. (https:\/\/doi.org\/10.3389\/fgene.2021.648701)"},{"key":"bib159","series-title":"J Clin Endocrinol Metab","first-page":"e899","article-title":"Causes and consequences of polycystic ovary syndrome: insights from Mendelian randomization","volume":"107","author":"Zhu T","year":"2022","unstructured":"Zhu T\n & \nGoodarzi MO\n\n 2022 Causes and consequences of polycystic ovary syndrome: insights from Mendelian randomization. J Clin Endocrinol Metab 107 e899\u2013e911. (https:\/\/doi.org\/10.1210\/clinem\/dgab757)"}],"container-title":["Reproduction"],"original-title":[],"link":[{"URL":"https:\/\/rep.bioscientifica.com\/view\/journals\/rep\/170\/5\/REP-25-0126.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/rep.bioscientifica.com\/downloadpdf\/journals\/rep\/170\/5\/REP-25-0126.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rep.bioscientifica.com\/downloadpdf\/journals\/rep\/170\/5\/REP-25-0126.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T23:03:38Z","timestamp":1767567818000},"score":1,"resource":{"primary":{"URL":"https:\/\/rep.bioscientifica.com\/view\/journals\/rep\/170\/5\/REP-25-0126.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,22]]},"references-count":160,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/rep-25-0126","relation":{},"ISSN":["1470-1626","1741-7899"],"issn-type":[{"value":"1470-1626","type":"print"},{"value":"1741-7899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,22]]}}}