{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:36:04Z","timestamp":1790044564785,"version":"4.0.1"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"DOI":"10.1186\/s12902-025-01979-0","type":"journal-article","created":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T07:42:49Z","timestamp":1761205369000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Exploring genotype-phenotype correlation of FSHR polymorphisms in polycystic ovary syndrome"],"prefix":"10.1186","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-3481-3501","authenticated-orcid":false,"given":"Mandeep","family":"Kaur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5391-7539","authenticated-orcid":false,"given":"Sukhjashanpreet","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archana","family":"Beri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2010-1234","authenticated-orcid":false,"given":"Anupam","family":"Kaur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,23]]},"reference":[{"key":"1979_CR1","doi-asserted-by":"publisher","first-page":"719050","DOI":"10.1155\/2014\/719050","volume":"2014","author":"J Rojas","year":"2014","unstructured":"Rojas J, Ch\u00e1vez M, Olivar L, Rojas M, Morillo J, Mej\u00edas J, Calvo M, Berm\u00fadez V. Polycystic ovary syndrome, insulin resistance, and obesity: navigating the pathophysiologic labyrinth. Int J Reprod Med. 2014;2014:719050.","journal-title":"Int J Reprod Med"},{"key":"1979_CR2","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1093\/humrep\/det469","volume":"29","author":"MP Lauritsen","year":"2014","unstructured":"Lauritsen MP, Bentzen JG, Pinborg A, Loft A, Forman JL, Thuesen LL, Cohen A, Hougaard DM, Nyboe Andersen A. The prevalence of polycystic ovary syndrome in a normal population according to the Rotterdam criteria versus revised criteria including anti-M\u00fcllerian hormone. Hum Reprod. 2014;29:791\u2013801.","journal-title":"Hum Reprod"},{"key":"1979_CR3","doi-asserted-by":"publisher","first-page":"e2440583","DOI":"10.1001\/jamanetworkopen.2024.40583","volume":"1","author":"MA Ganie","year":"2024","unstructured":"Ganie MA, Chowdhury S, Malhotra N, Sahay R, Bhattacharya PK, Agrawal S, Jabbar PK, Suri V, Rozati R, Sreenivas V, Baba MS. Prevalence, phenotypes, and comorbidities of polycystic ovary syndrome among Indian women. JAMA Netw Open. 2024;1:e2440583.","journal-title":"JAMA Netw Open"},{"key":"1979_CR4","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1093\/humrep\/dew329","volume":"32","author":"MM Ollila","year":"2017","unstructured":"Ollila MM, West S, Kein\u00e4nen-Kiukaanniemi S, Jokelainen J, Auvinen J, Puukka K, Ruokonen A, J\u00e4rvelin MR, Tapanainen JS, Franks S, Piltonen TT. Overweight and obese but not normal weight women with PCOS are at increased risk of type 2 diabetes mellitus\u2014a prospective, population-based cohort study. Hum Reprod. 2017;32:423\u201331.","journal-title":"Hum Reprod"},{"key":"1979_CR5","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1111\/obr.12762","volume":"20","author":"SS Lim","year":"2019","unstructured":"Lim SS, Kakoly NS, Tan JW, Fitzgerald G, Bahri Khomami M, Joham AE, Cooray SD, Misso ML, Norman RJ, Harrison CL, Ranasinha S. Metabolic syndrome in polycystic ovary syndrome: a systematic review, meta-analysis and meta\u2010regression. Obes Rev. 2019;20:339\u201352.","journal-title":"Obes Rev"},{"key":"1979_CR6","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1097\/AOG.0b013e318202b0a4","volume":"117","author":"A Dokras","year":"2011","unstructured":"Dokras A, Clifton S, Futterweit W, Wild R. Increased risk for abnormal depression scores in women with polycystic ovary syndrome: a systematic review and meta-analysis. Obstet Gynecol. 2011;117:145\u201352.","journal-title":"Obstet Gynecol"},{"key":"1979_CR7","doi-asserted-by":"publisher","first-page":"601334","DOI":"10.1183\/13993003.01334-2016","volume":"49","author":"TD Htet","year":"2017","unstructured":"Htet TD, Teede HJ, De Courten B, Loxton D, Real FG, Moran LJ, Joham AE. Asthma in reproductive-aged women with polycystic ovary syndrome and association with obesity. Eur Respir J. 2017;49:601334.","journal-title":"Eur Respir J"},{"key":"1979_CR8","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.tem.2014.12.003","volume":"26","author":"LJ Moran","year":"2015","unstructured":"Moran LJ, Norman RJ, Teede HJ. Metabolic risk in PCOS: phenotype and adiposity impact. Trends Endocrinol Metab. 2015;26:136\u201343.","journal-title":"Trends Endocrinol Metab"},{"key":"1979_CR9","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1210\/er.2015-1104","volume":"37","author":"RL Rosenfield","year":"2016","unstructured":"Rosenfield RL, Ehrmann DA. The pathogenesis of polycystic ovary syndrome (PCOS): the hypothesis of PCOS as functional ovarian hyperandrogenism revisited. Endocr Rev. 2016;37:467\u2013520.","journal-title":"Endocr Rev"},{"key":"1979_CR10","doi-asserted-by":"publisher","first-page":"bvaa163","DOI":"10.1210\/jendso\/bvaa163","volume":"5","author":"RL Rosenfield","year":"2021","unstructured":"Rosenfield RL. Glucocorticoid resistance in premature adrenarche and PCOS: from childhood to adulthood. J Endocr Soc. 2021;5:bvaa163.","journal-title":"J Endocr Soc"},{"key":"1979_CR11","first-page":"739","volume":"18","author":"M Simoni","year":"1997","unstructured":"Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997;18:739\u201373.","journal-title":"Endocr Rev"},{"key":"1979_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13048-021-00880-3","volume":"14","author":"D Bhartiya","year":"2021","unstructured":"Bhartiya D, Patel H. An overview of FSH-FSHR biology and explaining the existing conundrums. J Ovarian Res. 2021;14:1\u20134.","journal-title":"J Ovarian Res"},{"key":"1979_CR13","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1093\/molehr\/gau024","volume":"20","author":"C Karakaya","year":"2014","unstructured":"Karakaya C, Guzeloglu-Kayisli O, Hobbs RJ, Gerasimova T, Uyar A, Erdem M, Oktem M, Erdem A, Gumuslu S, Ercan D, Sakkas D. Follicle-stimulating hormone receptor (FSHR) alternative skipping of exon 2 or 3 affects ovarian response to FSH. Mol Hum Reprod. 2014;20:630\u201343.","journal-title":"Mol Hum Reprod"},{"key":"1979_CR14","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1038\/s41467-023-36170-3","volume":"14","author":"J Duan","year":"2023","unstructured":"Duan J, Xu P, Zhang H, Luan X, Yang J, He X, Mao C, Shen DD, Ji Y, Cheng X, Jiang H. Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor. Nat Commun. 2023;14:519.","journal-title":"Nat Commun"},{"key":"1979_CR15","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1038\/ng.732","volume":"43","author":"ZJ Chen","year":"2011","unstructured":"Chen ZJ, Zhao H, He L, Shi Y, Qin Y, Shi Y, Li Z, You L, Zhao J, Liu J, Liang X. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16. 3, 2p21 and 9q33. 3. Nat Genet. 2011;43:55\u20139.","journal-title":"Nat Genet"},{"key":"1979_CR16","doi-asserted-by":"publisher","first-page":"1020","DOI":"10.1038\/ng.2384","volume":"44","author":"Y Shi","year":"2012","unstructured":"Shi Y, Zhao H, Shi Y, Cao Y, Yang D, Li Z, Zhang B, Liang X, Li T, Chen J, Shen J. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet. 2012;44:1020\u20135.","journal-title":"Nat Genet"},{"key":"1979_CR17","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1007\/s10815-017-0953-z","volume":"34","author":"JJ Kim","year":"2017","unstructured":"Kim JJ, Choi YM, Hong MA, Chae SJ, Hwang K, Yoon SH, Ku SY, Suh CS, Kim SH. FSH receptor gene p. Thr307Ala and p. Asn680Ser polymorphisms are associated with the risk of polycystic ovary syndrome. J Assist Reprod Genet. 2017;34:1087\u201393.","journal-title":"J Assist Reprod Genet"},{"key":"1979_CR18","first-page":"1","volume":"23","author":"M Kaur","year":"2023","unstructured":"Kaur M, Singh S, Kaur R, Beri A, Kaur A. Analyzing the impact of FSHR variants on polycystic ovary Syndrome\u2014a Case-Control study in Punjab. Reprod Sci. 2023;23:1\u20130.","journal-title":"Reprod Sci"},{"key":"1979_CR19","doi-asserted-by":"publisher","first-page":"R91","DOI":"10.1530\/EJE-13-0624","volume":"170","author":"M Simoni","year":"2014","unstructured":"Simoni M, Casarini L. Mechanisms in endocrinology: genetics of FSH action: a 2014-and-beyond view. Eur J Endocrinol. 2014;170:R91\u2013107.","journal-title":"Eur J Endocrinol"},{"key":"1979_CR20","first-page":"715","volume":"13","author":"W Dan","year":"2015","unstructured":"Dan W, Jing G, Liangbin X, Ting Z, Ying Z. Association of follicle stimulating hormone receptor Pr Omoter with ovarian response in IVF-ET patients. Iran J Reprod Med. 2015;13:715\u201320.","journal-title":"Iran J Reprod Med"},{"key":"1979_CR21","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/j.rbmo.2016.06.001","volume":"33","author":"D Tohlob","year":"2016","unstructured":"Tohlob D, Hashem EA, Ghareeb N, Ghanem M, Elfarahaty R, Byers H, Pemberton P, Roberts SA, Newman WG, Mohiyiddeen L. Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment. Reprod BioMed Online. 2016;33:391\u20137.","journal-title":"Reprod BioMed Online"},{"key":"1979_CR22","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1007\/s10815-015-0427-0","volume":"32","author":"WY Almawi","year":"2015","unstructured":"Almawi WY, Hubail B, Arekat DZ, Al-Farsi SM, Al-Kindi SK, Arekat MR, Mahmood N, Madan S. Leutinizing hormone\/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome. J Assist Reprod Genet. 2015;32:607\u201314.","journal-title":"J Assist Reprod Genet"},{"key":"1979_CR23","doi-asserted-by":"publisher","first-page":"9212","DOI":"10.3390\/ijms25179212","volume":"25","author":"MC Alarc\u00f3n-Granados","year":"2024","unstructured":"Alarc\u00f3n-Granados MC, Camargo-Villalba GE, Forero-Castro M. Exploring genetic interactions in Colombian women with polycystic ovarian syndrome: A study on SNP-SNP associations. Int J Mol Sci. 2024;25:9212.","journal-title":"Int J Mol Sci"},{"key":"1979_CR24","doi-asserted-by":"crossref","unstructured":"Du T, Duan Y, Li K, Zhao X, Ni R, Li Y, Yang D. (2015) Statistical genomic approach identifies association between FSHR polymorphisms and polycystic ovary morphology in women with polycystic ovary syndrome. BioMed Res Int 2015:483726.","DOI":"10.1155\/2015\/483726"},{"key":"1979_CR25","doi-asserted-by":"crossref","unstructured":"Louwers YV, Stolk L, Uitterlinden AG, Laven JS. (2013) Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome. J Clin Endocrinol Metab 98: E2006-E2012.","DOI":"10.1210\/jc.2013-2495"},{"key":"1979_CR26","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1186\/s12902-022-01251-9","volume":"22","author":"S Singh","year":"2022","unstructured":"Singh S, Kaur M, Kaur R, Beri A, Kaur A. Association analysis of LHCGR variants and polycystic ovary syndrome in punjab: a case\u2013control approach. BMC Endocr Disord. 2022;22:335.","journal-title":"BMC Endocr Disord"},{"key":"1979_CR27","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1093\/clinchem\/36.2.261","volume":"36","author":"K Adeli","year":"1990","unstructured":"Adeli K, Ogbonna G. Rapid purification of human DNA from whole blood for potential application in clinical chemistry laboratories. Clin Chem. 1990;36:261\u20134.","journal-title":"Clin Chem"},{"key":"1979_CR28","first-page":"160","volume":"4","author":"HR Kambalachenu","year":"2013","unstructured":"Kambalachenu HR, Durairaj Paul S, Nellepalli S, Venkatachalam P. Study on follicle stimulating hormone receptor gene polymorphism in South Indian women with polycystic ovarian syndrome. Am J Med. 2013;4:160\u20137.","journal-title":"Am J Med"},{"key":"1979_CR29","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/ng1706","volume":"38","author":"AD Skol","year":"2006","unstructured":"Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet. 2006;38:209\u201313.","journal-title":"Nat Genet"},{"key":"1979_CR30","doi-asserted-by":"publisher","first-page":"E182","DOI":"10.1210\/jc.2014-2689","volume":"100","author":"MA Brower","year":"2015","unstructured":"Brower MA, Jones MR, Rotter JI, Krauss RM, Legro RS, Azziz R, Goodarzi MO. Further investigation in Europeans of susceptibility variants for polycystic ovary syndrome discovered in genome-wide association studies of Chinese individuals. J Clin Endocr Metab. 2015;100:E182\u20136.","journal-title":"J Clin Endocr Metab"},{"key":"1979_CR31","doi-asserted-by":"publisher","first-page":"2327","DOI":"10.3390\/diagnostics11122327","volume":"11","author":"L Lidaka","year":"2021","unstructured":"Lidaka L, Bekere L, Rota A, Isakova J, Lazdane G, Kivite-Urtane A, Dzivite-Krisane I, Kempa I, Dobele Z, Gailite L. Role of single nucleotide variants in FSHR, GNRHR, ESR2 and LHCGR genes in adolescents with polycystic ovary syndrome. Diagnostics. 2021;11:2327.","journal-title":"Diagnostics"},{"key":"1979_CR32","doi-asserted-by":"publisher","first-page":"1454","DOI":"10.1093\/humrep\/dev085","volume":"30","author":"R Saxena","year":"2015","unstructured":"Saxena R, Georgopoulos NA, Braaten TJ, Bjonnes AC, Koika V, Panidis D, Welt CK. Han Chinese polycystic ovary syndrome risk variants in women of European ancestry: relationship to FSH levels and glucose tolerance. Hum Reprod. 2015;30:1454\u20139.","journal-title":"Hum Reprod"},{"key":"1979_CR33","doi-asserted-by":"publisher","first-page":"12619","DOI":"10.1038\/srep12619","volume":"5","author":"S Zhao","year":"2015","unstructured":"Zhao S, Tian Y, Gao X, Zhang X, Liu H, You L, Cao Y, Su S, Chan WY, Sun Y, Zhao H. Family-based analysis of eight susceptibility loci in polycystic ovary syndrome. Sci Rep. 2015;5:12619.","journal-title":"Sci Rep"},{"key":"1979_CR34","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1159\/000341679","volume":"40","author":"S Catteau-Jonard","year":"2013","unstructured":"Catteau-Jonard S, Dewailly D. Pathophysiology of polycystic ovary syndrome: the role of hyperandrogenism. Front Horm Res. 2013;40:22\u20137.","journal-title":"Front Horm Res"},{"key":"1979_CR35","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1210\/jcem-73-4-811","volume":"73","author":"BC Fauser","year":"1991","unstructured":"Fauser BC, Pache TD, Lamberts SW, Hop WC, De Jong FH, Dahl KD. Serum bioactive and immunoreactive luteinizing hormone and follicle-stimulating hormone levels in women with cycle abnormalities, with or without polycystic ovarian disease. J Clin Endocr Metab. 1991;73:811\u20137.","journal-title":"J Clin Endocr Metab"},{"key":"1979_CR36","doi-asserted-by":"publisher","first-page":"2014","DOI":"10.1093\/humrep\/dep113","volume":"24","author":"O Valkenburg","year":"2009","unstructured":"Valkenburg O, Uitterlinden AG, Piersma D, Hofman A, Themmen AP, De Jong FH, Fauser BC, Laven JS. Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. Hum Reprod. 2009;24:2014\u201322.","journal-title":"Hum Reprod"},{"key":"1979_CR37","doi-asserted-by":"publisher","first-page":"2266","DOI":"10.1093\/humrep\/del175","volume":"21","author":"MJ Chen","year":"2006","unstructured":"Chen MJ, Yang WS, Yang JH, Hsiao CK, Yang YS, Ho HN. Low sex hormone-binding Globulin is associated with low high-density lipoprotein cholesterol and metabolic syndrome in women with PCOS. Hum Reprod. 2006;21:2266\u201371.","journal-title":"Hum Reprod"},{"key":"1979_CR38","first-page":"3116","volume":"12","author":"D Sun","year":"2020","unstructured":"Sun D, Bai M, Jiang Y, Hu M, Wu S, Zheng W, Zhang Z. Roles of follicle stimulating hormone and its receptor in human metabolic diseases and cancer. Am J Transl Res. 2020;12:3116.","journal-title":"Am J Transl Res"}],"container-title":["BMC Endocrine Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-025-01979-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12902-025-01979-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12902-025-01979-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T07:42:51Z","timestamp":1761205371000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcendocrdisord.biomedcentral.com\/articles\/10.1186\/s12902-025-01979-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,23]]},"references-count":38,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1979"],"URL":"https:\/\/doi.org\/10.1186\/s12902-025-01979-0","relation":{},"ISSN":["1472-6823"],"issn-type":[{"value":"1472-6823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,23]]},"assertion":[{"value":"29 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Ethical Committee of Guru Nanak Dev University (296\/HG) which followed the Declaration of Helsinki. Informed consent was taken from all the study participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Clinical trial number"}}],"article-number":"239"}}