Increased frequency of the anti-mullerian-inhibiting hormone receptor 2 (AMHR2) 482 A>G polymorphism in women with polycystic ovary syndrome: relationship to luteinizing hormone levels

J Clin Endocrinol Metab. 2013 Nov;98(11):E1866-70. doi: 10.1210/jc.2013-2458. Epub 2013 Aug 22.


Context: The polycystic ovary syndrome (PCOS) is a common and complex disease without a clear pattern of inheritance. Anti-Müllerian hormone (AMH) has an inhibitory effect on FSH-stimulated follicle growth. Serum AMH levels are higher in women with PCOS than in normo-ovulatory women. The elevated AMH levels may reflect abnormalities in AMH signaling.

Objective: The purpose of this study was to evaluate the association of the anti-Müllerian hormone receptor 2 (AMHR2) -482 A>G polymorphism (rs2002555) with the pathophysiology of PCOS.

Design: AMHR2 -482 A>G polymorphism genotyping were performed in a large cohort of women with PCOS and in a healthy control group.

Setting/subjects: A total of 858 Caucasian Greek women with PCOS and 309 healthy control women were studied.

Interventions: Genotyping and hormonal measurements were preformed.

Main outcome measures: Hormone levels in women with PCOS were analyzed.

Results: The AMHR2 polymorphism was more common in women with PCOS than in control women (P = .026). Homozygous AMHR2 -482 A>G gene polymorphisms (GG) were associated with decreased levels of LH (P = .003) and lower LH to FSH ratios (P = .01) in women with PCOS, as well as with lower prolactin levels (P = .004). No other associations related to AMHR2 -482 A>G polymorphisms were observed in women with PCOS or control women.

Conclusion: In this study, the role of the AMHR2 -482 A>G gene polymorphism in the pathogenesis of PCOS was suggested by the association of the variant with PCOS risk. Thus, further research is needed to elucidate a possible association of the AMHR2 -482 A>G gene polymorphism with AMH signaling and impaired ovarian function and its clinical significance in women with PCOS.

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Luteinizing Hormone / blood*
  • Ovulation / genetics
  • Polycystic Ovary Syndrome / epidemiology
  • Polycystic Ovary Syndrome / genetics*
  • Polycystic Ovary Syndrome / metabolism*
  • Polymorphism, Single Nucleotide*
  • Receptors, Peptide / genetics*
  • Receptors, Peptide / metabolism
  • Receptors, Transforming Growth Factor beta / genetics*
  • Receptors, Transforming Growth Factor beta / metabolism
  • Risk Factors
  • Signal Transduction / genetics
  • Young Adult


  • Receptors, Peptide
  • Receptors, Transforming Growth Factor beta
  • anti-Mullerian hormone receptor
  • Luteinizing Hormone