Variation analysis of anti-Müllerian hormone gene in Chinese women with polycystic ovary syndrome

Lang Qin, Shigang Zhao, Ping Yang, Yongzhi Cao, Jiangtao Zhang, Zi Jiang Chen, Andrea Dunaif, Han Zhao

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Purpose: Anti-Müllerian hormone (AMH) is crucial for folliculogenesis. Prenatal exposure to AMH in mice produces a phenocopy of polycystic ovary syndrome (PCOS) in the adult female offspring. The aim of this study was to determine whether genetic variation in AMH gene contribute to PCOS in women of Chinese ancestry. Methods: We conducted a case–control genetic study in 383 PCOS case and 433 control women of Chinese ancestry. The exons and the 5′ flanking region of AMH were sanger sequenced. Bioinformatic prediction of variant deleteriousness was performed. Results: Seven novel heterozygous variants along with 15 rare known variants in AMH were identified in women with PCOS but not in controls. The novel variants included one frameshift variant (c.125_129delACTTG), one synonymous variant (c.1095C>T), one variant (c.-14T>C) in the 5’-untranslated region (UTR), four variants(c.-775C>T, c.-682C>T, c.-333A>G, c.-137A>T) in 5′ flanking sequence. Of all the AMH variants identified in women with PCOS, eight were predicted to be deleterious by bioinformatic analysis. The PCOS carriers of predicted-to-be-deleterious PCOS-specific AMH variants had increased total follicle numbers compared to PCOS noncarriers (p = 0.021). Conclusions: Our findings suggest the AMH plays a role in the development of PCOS. The exact mechanisms by which the predicted-to-be-deleterious novel and rare AMH variants described in our study affect AMH function requires further study.

Original languageEnglish
Pages (from-to)287-293
Number of pages7
Issue number1
StatePublished - Apr 2021
Externally publishedYes


  • Anti-Müllerian hormone
  • Polycystic ovary syndrome
  • Sanger sequencing
  • Variant


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