{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T09:36:11Z","timestamp":1785490571650,"version":"3.56.0"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T00:00:00Z","timestamp":1746662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in the genes encoding anti\u2010mullerian hormone (<jats:italic>AMH<\/jats:italic>) and its receptor 2 (<jats:italic>AMHR2<\/jats:italic>) have been identified as potential contributors to the development of polycystic ovary syndrome (PCOS). However, results from association studies examining their role in PCOS have been inconsistent.<\/jats:p><jats:p>This study aims to investigate the potential association between <jats:italic>AMH<\/jats:italic> and <jats:italic>AMHR2<\/jats:italic> gene variants and the risk of PCOS as well as their influence on serum AMH levels in a Tunisian cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The case\u2010control study recruited 327 PCOS women and 396 healthy controls. DNA was extracted and genotyped for three variants in the <jats:italic>AMH<\/jats:italic> gene namely, rs4807216, rs10407022 and rs8112524 as well as three variants in the <jats:italic>AMHR2<\/jats:italic> gene, including rs2002555, rs11170553 and rs2272002, using the TaqMan SNP genotyping assay. Fasting serum AMH levels were quantified using ELISA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Significant metabolic differences were observed in the PCOS cohort, including higher BMI, and elevated levels of AMH, glucose, triglycerides, and cholesterol, along with lower FSH levels. The investigation of genetic associations between <jats:italic>AMH<\/jats:italic> and <jats:italic>AMHR2<\/jats:italic> gene variants and PCOS susceptibility revealed notable genotype\u2010specific correlations with lipid profiles. Specifically, the <jats:italic>AMH<\/jats:italic> rs8112524 A\/A and G\/A genotypes were correlated to increased triglyceride levels, while the <jats:italic>AMHR2<\/jats:italic> rs2002555 G\/G genotype, as well as the rs11170553 T\/T and C\/T genotypes, were correlated with decreased HDL levels. However, no significant allelic, genotypic or haplotypic associations were identified, nor was any substantial impact on serum AMH levels observed. Additionally, interaction and epistasis analyses indicated that the <jats:italic>AMH<\/jats:italic> and <jats:italic>AMHR2<\/jats:italic> variants had no significant predictive capabilities regarding PCOS susceptibility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Although <jats:italic>AMH<\/jats:italic> and <jats:italic>AMHR2<\/jats:italic> variants may not directly influence PCOS susceptibility, they could play a role in modulating lipid metabolism associated with the syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.15269","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T05:53:11Z","timestamp":1746769991000},"page":"242-250","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The Role of <i>AMH<\/i> and <i>AMHR2<\/i> Variants in Polycystic Ovary Syndrome: \u2018A Comprehensive Analysis\u2019"],"prefix":"10.1111","volume":"103","author":[{"given":"Sameh","family":"Sarray","sequence":"first","affiliation":[{"name":"College of Medicine and Health Sciences Arabian Gulf University Manama Bahrain"},{"name":"Faculty of Sciences University of Tunis EL Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Intissar","family":"Ezzidi","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"},{"name":"Higher Institute of Biotechnology of Monastir University of Monastir Monastir Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assila","family":"Ben Salem","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassen","family":"Ben Abdennebi","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4113-3945","authenticated-orcid":false,"given":"Nabil","family":"Mtiraoui","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir University of Monastir Monastir Tunisia"},{"name":"Higher Institute of Biotechnology of Monastir University of Monastir Monastir Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(86)90783-X"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gah015"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa513"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.927824"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab012"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-022-02625-7"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222212507"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1582"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.90684.2008"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12905-022-01782-2"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coemr.2020.04.006"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2023.07.025"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2003.09.007"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.2567"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000447918"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2009.05.025"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2010.02527.x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2458"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-015-0641-9"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-013-2734-y"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2205"},{"issue":"1","key":"e_1_2_10_23_1","first-page":"157","article-title":"Anti\u2010Mullerian Hormone Gene Polymorphism (rs10407022) and Its Association With the Incidence of Polycystic Ovary Syndrome in Iraqi Women","volume":"19","author":"Khudair S. 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