{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T18:21:11Z","timestamp":1792261271266,"version":"4.4.0"},"reference-count":110,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T00:00:00Z","timestamp":1644019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Polycystic ovary syndrome is a multifactorial condition associated with reproductive and endocrine organs and might cause infertility and metabolic abnormalities in childbearing age. PCOS seems to be a multifactorial disorder resulting from the combination of several genetic and environmental factors. Little research has been conducted to date on the impact of polymorphisms in infertility. We aim to review the appearance of polymorphisms in females of diverse ethnicities and their effect on infertility in the population with polycystic ovary syndrome. There have been numerous reports of the importance of the steroidogenesis pathway and genetic variants in PCOS pathogenesis. The most important genes that play a role in the aetiology of PCOS are CYP11A1, CYP17A1, and CYP19A1. We evaluated the occurrence of polymorphisms in various ethnicities in the CYP11A1, CYP17A1, and CYP19A1 genes and their efficacy on increasing PCOS risk with infertility. Our findings revealed that polymorphisms in various ethnicities are associated with the risk of PCOS with infertility. Although conflicting results regarding CYP11A1, CYP17A1, and CYP19A1 polymorphisms and their influence on PCOS with infertility have been reported in a small number of papers, the authors feel this may be attributable to the sample size and ethnic composition of the examined populations. In conclusion, our study strongly suggests that the CYP11A1, CYP17A1, and CYP19A1 genes might significantly enhance the probability of developing PCOS with infertility.<\/jats:p>","DOI":"10.3390\/genes13020302","type":"journal-article","created":{"date-parts":[[2022,2,6]],"date-time":"2022-02-06T20:36:47Z","timestamp":1644179807000},"page":"302","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":139,"title":["A Review on CYP11A1, CYP17A1, and CYP19A1 Polymorphism Studies: Candidate Susceptibility Genes for Polycystic Ovary Syndrome (PCOS) and Infertility"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7420-0599","authenticated-orcid":false,"given":"Roozbeh","family":"Heidarzadehpilehrood","sequence":"first","affiliation":[{"name":"Department of Obstetrics & Gynaecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Pirhoushiaran","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran 1417613151, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasoul","family":"Abdollahzadeh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran 1417613151, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5591-3315","authenticated-orcid":false,"given":"Malina","family":"Binti Osman","sequence":"additional","affiliation":[{"name":"Department of Medical Microbiology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Sakinah","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1019-0496","authenticated-orcid":false,"given":"Norshariza","family":"Nordin","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habibah","family":"Abdul Hamid","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/s41574-020-00456-z","article-title":"The importance of metabolic dysfunction in polycystic ovary syndrome","volume":"17","author":"Visser","year":"2021","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"662725","DOI":"10.3389\/fendo.2021.662725","article-title":"Clinical manifestations of polycystic ovary syndrome and associations with the vaginal microbiome: A cross-sectional based exploratory study","volume":"12","author":"Hong","year":"2021","journal-title":"Front. Endocrinol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ecl.2020.10.002","article-title":"Diagnosis of polycystic ovary syndrome","volume":"50","author":"Chang","year":"2021","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Gambineri, A., Cecchetti, C., Altieri, P., Ribichini, D., Lo Preiato, V., Fanelli, F., and Pagotto, U. (2022). Secondary PCOS: Well-defined causes, leading to the PCOS phenotype. Polycystic Ovary Syndrome, Elsevier.","DOI":"10.1016\/B978-0-12-823045-9.00008-0"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Geraghty, P. (2022). The Interaction of Menopause and Chronic Disease. Each Woman\u2019s Menopause An Evidence Based Resource, Springer.","DOI":"10.1007\/978-3-030-85484-3"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1097\/GRF.0000000000000596","article-title":"Menstrual dysfunction in PCOS","volume":"64","author":"Walker","year":"2021","journal-title":"Clin. Obstet. Gynecol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1080\/09513590.2020.1859474","article-title":"Prevalence of acne vulgaris among women with polycystic ovary syndrome: A systemic review and meta-analysis","volume":"37","author":"Tehrani","year":"2021","journal-title":"Gynecol. Endocrinol."},{"key":"ref_8","first-page":"6652133","article-title":"Depressive and anxiety symptom assessment in adults with polycystic ovarian syndrome","volume":"2021","author":"Almeshari","year":"2021","journal-title":"Depression Res. Treat."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"261","DOI":"10.4103\/jhrs.JHRS_95_18","article-title":"The prevalence of polycystic ovary syndrome: A brief systematic review","volume":"13","author":"Pundir","year":"2020","journal-title":"J. Hum. Reprod. Sci."},{"key":"ref_10","first-page":"1","article-title":"Altered Molecular Pathways and Biomarkers of Endometrial Receptivity in Infertile Women with Polycystic Ovary Syndrome","volume":"1","author":"Guo","year":"2022","journal-title":"Reprod. Sci."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1093\/humrep\/deab256","article-title":"Reply: Association of Maternal Polycystic Ovary Syndrome or Anovulatory Infertility with Obesity and Diabetes in Offspring: A Population-Based Cohort Study","volume":"37","author":"Chen","year":"2021","journal-title":"Hum. Reprod."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Ka\u0142u\u017cna, M., Cz\u0142apka-Matyasik, M., Wachowiak-Ochma\u0144ska, K., Moczko, J., Kaczmarek, J., Janicki, A., Pi\u0105tek, K., Rucha\u0142a, M., and Ziemnicka, K. (2020). Effect of central obesity and hyperandrogenism on selected inflammatory markers in patients with PCOS: A WHtR-matched case-control study. J. Clin. Med., 9.","DOI":"10.3390\/jcm9093024"},{"key":"ref_13","first-page":"339","article-title":"Maternal and neonatal outcomes among pregnant women with different polycystic ovary syndrome phenotypes: A cross-sectional study","volume":"18","author":"Firoozabadi","year":"2020","journal-title":"Int. J. Reprod. Biomed."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fendo.2020.575337","article-title":"Pregnancy outcomes of women with polycystic ovary syndrome for the first in vitro fertilization treatment: A retrospective cohort study with 7678 patients","volume":"11","author":"Liu","year":"2020","journal-title":"Front. Endocrinol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/s41574-021-00517-x","article-title":"Epigenetic inheritance of polycystic ovary syndrome\u2014Challenges and opportunities for treatment","volume":"17","author":"Deng","year":"2021","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"bnaa010","DOI":"10.1210\/endrev\/bnaa010","article-title":"Animal Models to Understand the Etiology and Pathophysiology of Polycystic Ovary Syndrome","volume":"41","author":"Padmanabhan","year":"2020","journal-title":"Endocr. Rev."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Murrin, C.M., Kelly, G.E., Tremblay, R., and Kelleher, C.C. (2012). Body mass index and height over three generations: Evidence from the Lifeways cross-generational cohort study. BMC Public Health, 12.","DOI":"10.1186\/1471-2458-12-81"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/ijo.2014.34","article-title":"Epigenetics and human obesity","volume":"39","author":"EpiSCOPE","year":"2015","journal-title":"Int. J. Obes."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"17046","DOI":"10.1073\/pnas.0806560105","article-title":"Persistent epigenetic differences associated with prenatal exposure to famine in humans","volume":"105","author":"Heijmans","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.mce.2014.07.019","article-title":"Endocrine disruptor induction of epigenetic transgenerational inheritance of disease","volume":"398","author":"Skinner","year":"2014","journal-title":"Mol. Cell. Endocrinol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1080\/17446651.2019.1576522","article-title":"Hyperandrogenic origins of polycystic ovary syndrome\u2014Implications for pathophysiology and therapy","volume":"14","author":"Abbott","year":"2019","journal-title":"Expert Rev. Endocrinol. Metab."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.cmet.2021.01.004","article-title":"Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process","volume":"33","author":"Mimouni","year":"2021","journal-title":"Cell Metab."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1530\/REP-19-0197","article-title":"Mechanisms of intergenerational transmission of polycystic ovary syndrome","volume":"159","author":"Dumesic","year":"2020","journal-title":"Reproduction"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1152\/physiol.00017.2016","article-title":"Transmission of metabolic dysfunction across generations","volume":"32","author":"Jaeger","year":"2017","journal-title":"Physiology"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"274","DOI":"10.3389\/fendo.2020.00274","article-title":"PCOS-GWAS Susceptibility Variants in THADA, INSR, TOX3, and DENND1A are associated with metabolic syndrome or insulin resistance in women with PCOS","volume":"11","author":"Tian","year":"2020","journal-title":"Front. Endocrinol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1055\/s-0036-1585403","article-title":"Genome-wide association studies for polycystic ovary syndrome","volume":"34","author":"Liu","year":"2016","journal-title":"Semin. Reprod. Med."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Hiam, D., Moreno-Asso, A., Teede, H.J., Laven, J.S., Stepto, N.K., Moran, L.J., and Gibson-Helm, M. (2019). The genetics of polycystic ovary syndrome: An overview of candidate gene systematic reviews and genome-wide association studies. J. Clin. Med., 8.","DOI":"10.3390\/jcm8101606"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1016\/j.fertnstert.2021.03.024","article-title":"Polycystic ovary syndrome: An intrinsic risk factor for diabetes compounded by obesity","volume":"115","author":"Teede","year":"2021","journal-title":"Fertil. Steril."},{"key":"ref_29","unstructured":"Jiang, N.-X., and Li, X.-L. (2021). The disorders of endometrial receptivity in PCOS and its mechanisms. Reprod. Sci., 1\u201312."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"118","DOI":"10.4103\/GMIT.GMIT_112_18","article-title":"Evaluation of endometrial receptivity by measuring HOXA-10, HOXA-11, and leukemia inhibitory factor expression in patients with polycystic ovary syndrome","volume":"8","author":"Kara","year":"2019","journal-title":"Gynecol. Minim. Invasive Ther."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"470","DOI":"10.52547\/rbmb.9.4.470","article-title":"Investigation of the FSHR, CYP11, and INSR mutations and polymorphisms in iranian infertile women with Polycystic Ovary Syndrome (PCOS)","volume":"9","author":"Abutorabi","year":"2021","journal-title":"Rep. Biochem. Mol. Biol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S1472-6483(11)60572-5","article-title":"The genetics of polycystic ovary syndrome","volume":"13","author":"Baldi","year":"2006","journal-title":"Reprod. Biomed. Online"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13048-021-00879-w","article-title":"The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis","volume":"14","author":"Chaudhary","year":"2021","journal-title":"J. Ovarian Res."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2951","DOI":"10.1007\/s43032-021-00676-2","article-title":"Association Analysis of CYP11A1 variants with polycystic ovary syndrome: A case-control study from North India","volume":"28","author":"Kaur","year":"2021","journal-title":"Reprod. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.cca.2019.11.003","article-title":"Polycystic ovarian syndrome: Correlation between hyperandrogenism, insulin resistance and obesity","volume":"502","author":"Zeng","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_36","first-page":"1","article-title":"Genetic, hormonal and metabolic aspects of PCOS: An update","volume":"14","author":"Musacchio","year":"2016","journal-title":"Reprod. Biol. Endocrinol."},{"key":"ref_37","first-page":"200","article-title":"Initial and cyclic recruitment of ovarian follicles","volume":"21","author":"McGee","year":"2000","journal-title":"Endocr. Rev."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"40","DOI":"10.18544\/PEDM-24.01.0101","article-title":"Polycystic ovary syndrome (PCOS) and the accompanying disorders of glucose homeostasis among girls at the time of puberty","volume":"24","author":"Gliwice","year":"2018","journal-title":"Pediatr. Endocrinol. Diabetes Metab."},{"key":"ref_39","first-page":"e930591-1","article-title":"Associations between cytochrome P450 (CYP) gene single-nucleotide polymorphisms and second-to-fourth digit ratio in chinese university students","volume":"27","author":"Zhang","year":"2021","journal-title":"Med Sci. Monit."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Di Nardo, G., Zhang, C., Marcelli, A.G., and Gilardi, G. (2021). Molecular and structural evolution of cytochrome P450 aromatase. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22020631"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"137","DOI":"10.4158\/EP-2020-0478","article-title":"Clinical and genetic characteristics of 17 \u03b1-Hydroxylase\/17, 20-Lyase Deficiency: C.985_987delTACinsAA mutation of CYP17A1 prevalent in the chinese han population","volume":"27","author":"Xia","year":"2021","journal-title":"Endocr. Pract."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Wang, M., Strand, M.J., Lanser, B.J., Santos, C., Bendelja, K., Fish, J., Esterl, E.A., Ashino, S., Abbott, J.K., and Knight, V. (2020). Expression and activation of the steroidogenic enzyme CYP11A1 is associated with IL-13 production in T cells from peanut allergic children. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0233563"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/j.ympev.2015.09.012","article-title":"Genetic and structural analyses of cytochrome P450 hydroxylases in sex hormone biosynthesis: Sequential origin and subsequent coevolution","volume":"94","author":"Goldstone","year":"2016","journal-title":"Mol. Phylogenet. Evol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/hmg\/6.3.397","article-title":"Association of the steroid synthesis gene Cyp11a with polycystic ovary syndrome and hyperandrogenism","volume":"6","author":"Gharani","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/S0015-0282(99)00628-7","article-title":"Microsatellite polymorphism (tttta)n at \u2212528 base pairs of gene CYP11\u03b1 influences hyperandrogenemia in patients with polycystic ovary syndrome","volume":"73","author":"Bartzis","year":"2000","journal-title":"Fertil. Steril."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.fertnstert.2008.07.016","article-title":"CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome","volume":"92","author":"Pusalkar","year":"2009","journal-title":"Fertil. Steril."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"8379","DOI":"10.1007\/s11033-012-1688-7","article-title":"Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women","volume":"39","author":"Zhang","year":"2012","journal-title":"Mol. Biol. Rep."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"19","DOI":"10.21608\/rjab.2016.59375","article-title":"Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in egyptian female","volume":"2","author":"Dabous","year":"2016","journal-title":"Res. J. Appl. Biotechnol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3892\/ijmm.2021.4906","article-title":"Estrogen disorders: Interpreting the abnormal regulation of aromatase in granulosa cells (Review)","volume":"47","author":"Liu","year":"2021","journal-title":"Int. J. Mol. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"110888","DOI":"10.1016\/j.mce.2020.110888","article-title":"SOD2 deficiency-induced oxidative stress attenuates steroidogenesis in mouse ovarian granulosa cells","volume":"519","author":"Zaidi","year":"2020","journal-title":"Mol. Cell. Endocrinol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1007\/s10815-014-0236-x","article-title":"CYP11A1 microsatellite (tttta)n polymorphism in PCOS women from South India","volume":"31","author":"Reddy","year":"2014","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_52","first-page":"712","article-title":"Association Between Polycystic Ovary Syndrome and Polymorphisms of CYP11A Gene Among Sample of Iraqi Women Introduction: Molecular Analysis: Gene selection Polymerase chain reaction (PCR)","volume":"22","author":"Mohammed","year":"2020","journal-title":"J. Univ. Shanghai Sci. Technol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"504","DOI":"10.3389\/fendo.2018.00504","article-title":"Variant Alleles of the ESR1, PPARG, HMGA2, and MTHFR genes are associated with polycystic ovary syndrome risk in a chinese population: A case-control study","volume":"9","author":"Jiao","year":"2018","journal-title":"Front. Endocrinol."},{"key":"ref_54","first-page":"2434","article-title":"A prospective study of the prevalence of the polycystic ovary syndrome in unselected caucasian women from Spain","volume":"85","author":"Calvo","year":"2000","journal-title":"Clin. Endocrinol. Metab."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/S0015-0282(01)01677-6","article-title":"Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism","volume":"75","year":"2001","journal-title":"Fertil. Steril."},{"key":"ref_56","first-page":"212","article-title":"Role of the pentanucleotide (tttta)n polymorphisms ofCYP11\u03b1 gene in the pathogenesis of hyperandrogenism in chinese women with polycystic ovary syndrome","volume":"25","author":"Li","year":"2005","journal-title":"J. Huazhong Univ. Sci. Technol."},{"key":"ref_57","first-page":"56","article-title":"Evaluation of association between the CYP11\u03b1 promoter pen-tannucleotide (TTTTA)n polymorphism and polycystic ovarian syndrome among Han Chinese women","volume":"30","author":"Hao","year":"2009","journal-title":"Neuroendocrinol. Lett."},{"key":"ref_58","first-page":"129","article-title":"Polymorphism in CYP11alpha and CYP17 genes and the etiology of hyperandrogenism in patients with polycystic ovary syndrome","volume":"68","author":"Cerrone","year":"2008","journal-title":"Medicina"},{"key":"ref_59","first-page":"520","article-title":"(TTTTA), polymorphism in the promoter of the CYP11A1 gene in the pathogenesis of polycystic ovary syndrome","volume":"149","author":"Vondra","year":"2010","journal-title":"Cas. Lek. Ceskych"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"4435","DOI":"10.1007\/s11033-014-3314-3","article-title":"Polymorphisms of pentanucleotide repeats (tttta)n in the promoter of CYP11A1 and their relationships to polycystic ovary syndrome (PCOS) risk: A meta-analysis","volume":"41","author":"Yu","year":"2014","journal-title":"Mol. Biol. Rep."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s00404-013-2939-0","article-title":"Common polymorphisms in the CYP1A1 and CYP11A1 genes and polycystic ovary syndrome risk: A meta-analysis and meta-regression","volume":"289","author":"Shen","year":"2013","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1210\/jc.2003-031640","article-title":"Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone","volume":"89","author":"Gaasenbeek","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/S0015-0282(16)53510-9","article-title":"Dysregulation of cytochrome P450c17\u03b1 as the cause of polycystic ovarian syndrome. Supported in part by grants HD-06308 and Rr-00055 from the United States Public Health Service, Bethesda, Maryland","volume":"53","author":"Rosenfield","year":"1990","journal-title":"Fertil. Steril."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Be\u015fta\u015f, A., Bolu, S., Unal, E., Karakaya, A.A., Er\u00f6z, R., Tekin, M., and Haspolat, Y.K. (2021). A rare cause of delayed puberty and primary amenorrhea: 17\u03b1-hydroxylase enzyme deficiency. Endocrine, 1\u20137.","DOI":"10.1007\/s12020-021-02914-8"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1016\/j.metabol.2008.08.002","article-title":"Polymorphism T \u2192 C (\u221234 base pairs) of gene CYP17 promoter in women with polycystic ovary syndrome is associated with increased body weight and insulin resistance: A preliminary study","volume":"57","author":"Maliqueo","year":"2008","journal-title":"Metabolism"},{"key":"ref_66","first-page":"272","article-title":"Effect of CYP19 Gene on Polycystic Ovary Syndrome Phenotype in Iraqi Women. iasj.net","volume":"13","author":"Mutib","year":"2015","journal-title":"Iraqi J. Med. Sci."},{"key":"ref_67","first-page":"99","article-title":"Association Between Polycystic Ovary Syndrome and Genetic Polymorphisms of CYP 17 Gene in Iraqi Women","volume":"14","author":"Mohammad","year":"2015","journal-title":"Iraqi J. Biothechnol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1007\/s10815-018-1162-0","article-title":"Genetic association study from North India to analyze association of CYP19A1 and CYP17A1 with polycystic ovary syndrome","volume":"35","author":"Kaur","year":"2018","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/S0015-0282(98)00512-3","article-title":"Polymorphism T\u2192C (\u221234 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome","volume":"71","author":"Bartzis","year":"1999","journal-title":"Fertil. Steril."},{"key":"ref_70","first-page":"193","article-title":"The CYP17 MSP AI (T-34C) and CYP19A1 (Trp39Arg) variants in polycystic ovary syndrome: A case-control study","volume":"17","author":"Rahimi","year":"2019","journal-title":"Int. J. Reprod. Biomed."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1080\/09513590.2020.1822803","article-title":"Association of the CYP17 and CYP19 gene polymorphisms in women with polycystic ovary syndrome from Punjab, Pakistan","volume":"37","author":"Lone","year":"2021","journal-title":"Gynecol. Endocrinol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1080\/09513590.2020.1770724","article-title":"CYP17 gene polymorphic sequence variation is associated with hyperandrogenism in Kashmiri women with polycystic ovarian syndrome","volume":"37","author":"Ashraf","year":"2021","journal-title":"Gynecol. Endocrinol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"323","DOI":"10.3389\/fendo.2018.00323","article-title":"A study on the association between polymorphisms in the cytochrome P450 family 17 subfamily a member 1 gene region and type 2 diabetes mellitus in han chinese","volume":"9","author":"Wang","year":"2018","journal-title":"Front. Endocrinol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1111\/jog.12733","article-title":"No association between CYP17 -34T\/C polymorphism and insulin resistance in Thai polycystic ovary syndrome","volume":"41","author":"Techatraisak","year":"2015","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s10815-009-9308-8","article-title":"Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome","volume":"26","author":"Unsal","year":"2009","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/j.fertnstert.2004.05.068","article-title":"Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome","volume":"82","author":"Kahsarmiller","year":"2004","journal-title":"Fertil. Steril."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1093\/hmg\/3.10.1873","article-title":"Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17","volume":"3","author":"Carey","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/j.1399-0004.1997.tb02519.x","article-title":"A polymorphism in intron 6 of the CYP17 gene","volume":"52","author":"Crocitto","year":"2008","journal-title":"Clin. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1016\/S0959-8049(00)00334-8","article-title":"Genetic polymorphism in CYP17 and breast cancer risk in Japanese women","volume":"36","author":"Miyoshi","year":"2000","journal-title":"Eur. J. Cancer"},{"key":"ref_80","first-page":"249","article-title":"Association study for single nucleotide polymorphisms in the CYP17A1 gene and polycystic ovary syndrome","volume":"22","author":"Baek","year":"1998","journal-title":"Int. J. Mol. Med."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s10549-018-4813-z","article-title":"Phase 1 study of seviteronel, a selective CYP17 lyase and androgen receptor inhibitor, in women with estrogen receptor-positive or triple-negative breast cancer","volume":"171","author":"Bardia","year":"2018","journal-title":"Breast Cancer Res. Treat."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"4200","DOI":"10.18632\/oncotarget.23688","article-title":"Association between CYP17 T-34C rs743572 and breast cancer risk","volume":"9","author":"Sun","year":"2017","journal-title":"Oncotarget"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11912-015-0487-4","article-title":"The Epidemiology of Male Breast Cancer","volume":"18","author":"Ferzoco","year":"2015","journal-title":"Curr. Oncol. Rep."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1557988320959984","DOI":"10.1177\/1557988320959984","article-title":"Polymorphism in the Androgen Biosynthesis Gene (CYP17), a Risk for Prostate Cancer: A Meta-Analysis","volume":"14","author":"Effah","year":"2020","journal-title":"Am. J. Men\u2019s Health"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"50","DOI":"10.24126\/jobrc.2014.8.1.305","article-title":"Plymorphism of CYP17 for Polycystic Ovarian Syndrome in Women of Salah Al-Din Provence\/Iraq","volume":"8","author":"Omear","year":"2014","journal-title":"J. Biotechnol. Res. Cent."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"E2006","DOI":"10.1210\/jc.2013-2495","article-title":"Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome","volume":"98","author":"Louwers","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0960-0760(01)00134-0","article-title":"Role of aromatase in endometrial disease","volume":"79","author":"Bulun","year":"2001","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1093\/humrep\/dem382","article-title":"The role of sex hormone-binding globulin and androgen receptor gene variants in the development of polycystic ovary syndrome","volume":"23","author":"Xita","year":"2008","journal-title":"Hum. Reprod."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1086\/313970","article-title":"Human necrobacillosis, with emphasis on lemierre\u2019s syndrome","volume":"31","author":"Kristensen","year":"2000","journal-title":"Clin. Infect. Dis."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/S1472-6483(10)60009-0","article-title":"Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: A preliminary report","volume":"18","author":"Haller","year":"2009","journal-title":"Reprod. Biomed. Online"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/jhg.2010.6","article-title":"Identification of CYP19A1 single-nucleotide polymorphisms and their haplotype distributions in a Korean population","volume":"55","author":"Lee","year":"2010","journal-title":"J. Hum. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1158\/1055-9965.EPI-08-0689","article-title":"Two estrogen-related variants in CYP19A1 and endometrial cancer risk: A pooled analysis in the Epidemiology of Endometrial Cancer Consortium","volume":"18","author":"Setiawan","year":"2009","journal-title":"Cancer Epidemiol. Prev. Biomark."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"e103","DOI":"10.1038\/emm.2014.31","article-title":"CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women","volume":"46","author":"Wang","year":"2014","journal-title":"Exp. Mol. Med."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s10815-011-9673-y","article-title":"Aromatase (CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation","volume":"29","author":"Lazaros","year":"2012","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_95","first-page":"245","article-title":"SNP rs2470152 in CYP19 is correlated to aromatase activity in Chinese polycystic ovary syndrome patients","volume":"5","author":"Wang","year":"2011","journal-title":"Mol. Med. Rep."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"478","DOI":"10.3109\/09513590.2013.774359","article-title":"CYP19gene variants affect the assisted reproduction outcome of women with polycystic ovary syndrome","volume":"29","author":"Lazaros","year":"2013","journal-title":"Gynecol. Endocrinol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"5041","DOI":"10.1007\/s11033-013-2605-4","article-title":"The (TTTA) n polymorphism in intron 4 of CYP19 and the polycystic ovary syndrome risk in a Chinese population","volume":"40","author":"Xu","year":"2013","journal-title":"Mol. Biol. Rep."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.kjms.2017.06.008","article-title":"The relationship between the CYP19 alleles rs727479A\/C, rs700518A\/G, and rs700519C\/T and pregnancy outcome after assisted reproductive technology in patients with polycystic ovary syndrome in a Chinese population: A population-based study","volume":"33","author":"Dou","year":"2017","journal-title":"Kaohsiung J. Med Sci."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"491","DOI":"10.29252\/ijrm.15.8.491","article-title":"Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women","volume":"15","author":"Mehdizadeh","year":"2017","journal-title":"Int. J. Reprod. Biomed."},{"key":"ref_100","doi-asserted-by":"crossref","unstructured":"Feng-Jing, L., Sun, J., Ge, H.-J., Cao, Y.-X., Wu, X.-K., Liang, F.-J., Sun, H.-X., Xiao-Ke, W., Yi, L., and Wu, Z.-W. (2009). Association between CYP19 gene SNP rs2414096 Polymorphism and polycystic ovary syndrome in Chinese women. BMC Med. Genet., 10.","DOI":"10.1186\/1471-2350-10-139"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.fertnstert.2009.01.147","article-title":"CYP19 gene: A genetic modifier of polycystic ovary syndrome phenotype","volume":"94","author":"Xita","year":"2010","journal-title":"Fertil. Steril."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1530\/JME-19-0159","article-title":"PCOS serum-derived exosomal miR-27a-5p stimulates endometrial cancer cells migration and invasion","volume":"64","author":"Che","year":"2020","journal-title":"J. Mol. Endocrinol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/j.ygyno.2020.12.020","article-title":"A population-based study of causes of death after endometrial cancer according to major risk factors","volume":"160","author":"Lees","year":"2021","journal-title":"Gynecol. Oncol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"627","DOI":"10.2337\/db20-0800","article-title":"Polycystic Ovary Syndrome and Risk of Type 2 Diabetes, Coronary Heart Disease, and Stroke","volume":"70","author":"Zhu","year":"2020","journal-title":"Diabetes"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"100453","DOI":"10.1016\/j.genrep.2019.100453","article-title":"Association of TTTA polymorphism in CYP19 gene with endometrial and ovarian cancers risk in Basrah","volume":"16","author":"Ayyob","year":"2019","journal-title":"Gene Rep."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40738-016-0029-2","article-title":"Polycystic ovary syndrome and risk of endometrial, ovarian, and breast cancer: A systematic review","volume":"2","author":"Harris","year":"2016","journal-title":"Fertil. Res. Pract."},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"Kusum, K., Patel, S., Chaube, R., Ashish, A., and Rai, S. (2020). Aromatase gene polymorphism (rs2470152) in Polycystic Ovary Syndrome patients of eastern Uttar Pradesh. J. Clin. Diagn. Res., 3\u20138.","DOI":"10.7860\/JCDR\/2020\/44643.14098"},{"key":"ref_108","first-page":"1","article-title":"Relation between aromatase gene CYP19 variation and hyperandrogenism in Polycystic Ovary Syndrome Egyptian women","volume":"4","author":"Mostafa","year":"2016","journal-title":"J. Infertil. Reprod. Biol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s43032-019-00085-6","article-title":"Kisspeptin Influence on Polycystic Ovary Syndrome\u2014A Mini Review","volume":"27","author":"Baracat","year":"2020","journal-title":"Reprod. Sci."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.fertnstert.2008.06.035","article-title":"The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: The complete task force report","volume":"91","author":"Azziz","year":"2009","journal-title":"Fertil. Steril."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/302\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:14:29Z","timestamp":1760134469000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,5]]},"references-count":110,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2]]}},"alternative-id":["genes13020302"],"URL":"https:\/\/doi.org\/10.3390\/genes13020302","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,5]]}}}