A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients.

@article{Kevenaar2008AFA,
  title={A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients.},
  author={Marlies E. Kevenaar and Joop S E Laven and Sharon Lie Fong and Andr{\'e} G. Uitterlinden and Frank H de Jong and Axel P. N. Themmen and Jenny A. Visser},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2008},
  volume={93 4},
  pages={
          1310-6
        }
}
CONTEXT The common characteristic of polycystic ovary syndrome (PCOS) is a disturbance in the selection of the dominant follicle, resulting in anovulation. In PCOS women, serum anti-Müllerian hormone (AMH) levels are elevated. Because AMH decreases FSH sensitivity in mice, the elevated AMH levels may contribute to the disturbed follicle selection in PCOS women. OBJECTIVE The objective of the study was to investigate the role of the AMH signaling pathway in the pathophysiology of PCOS using a… 
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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.
TLDR
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 and further research is needed to elucidate a possible link with AMH signaling and impaired ovarian function.
Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance
TLDR
The research suggests that the diversity of AMH genotypes in the AMH signal pathway may be connected with the susceptibility and phenotype of PCOS with insulin resistance.
Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome.
TLDR
Genetic variation within ACVR1 is associated with AMH levels and follicle number in PCOS women, suggesting that ALK2 signalling contributes to the disturbed folliculogenesis in PCos patients.
Loss of anti-Müllerian hormone (AMH) immunoactivity due to a homozygous AMH gene variant rs10417628 in a woman with classical polycystic ovary syndrome (PCOS).
TLDR
A normal-weight woman with PCOS by NIH criteria with severely reduced AMH levels is described, finding that homozygous AMH variant rs10417628 may severely impair serum AMH immunoactivity without affecting its bioactivity or PCOS phenotypic expression.
Association study of anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms with idiopathic primary ovarian insufficiency.
TLDR
Within POI population, the AMH Ile(49)Ser and the AMHR2 -482A>G polymorphisms were not associated with age at the time of POI and LH, FSH as well as estradiol levels, and the findings suggest that genetic variants in the AMh signal transduction pathway may not influence the susceptibility of idiopathic POI.
Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome
TLDR
This study is the first to identify rare AMH coding variants that reduced AMH-mediated signaling in a subset of patients with PCOS, suggesting decreased AMH signaling as a mechanism for the pathogenesis of PCOS.
Is polycystic ovary syndrome an exception for reproductive aging?
TLDR
The reproductive lifespan of PCOS women extends on average 2 years beyond that of normo-ovulatory women and this information was used to estimate their menopausal age.
Haplotype analysis of single nucleotide polymorphisms in anti-Müllerian hormone gene in Chinese PCOS women
TLDR
Although individual TagSNPs in AMH gene do not affect susceptibility to PCOS, haplotypes of the two SNPs were associated with PCOS risk, as TA haplotype might enhance susceptibility toPCOS and GA inversely.
DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS)
TLDR
DNA methylation suggested that methylation of AMHRII and INSR genes was associated with basic clinical characteristics and insulin resistance of PCOS, and their methylation levels are intimately associated with the pathogenesis ofPCOS.
Assessment of FSHR, AMH, and AMHRII variants in women with polycystic ovary syndrome
TLDR
frequency of the SNPs in the FSHR, AMH, and AMHRIIgenes is investigated in a population of Polish women with PCOS to evaluate the possible association between these variants and susceptibility to PCOS and to concentrations of theadipokines, adiponectin, and RBP4.
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