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Article

Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.

The Journal of clinical endocrinology and metabolism - 1 Aug 2017

Gorsic Lidija K, Kosova Gulum, Werstein Brian, Sisk Ryan, Legro Richard S, Hayes M Geoffrey, Teixeira Jose M, Dunaif Andrea, Urbanek Margrit

Abstract excerpt

Context: Polycystic ovary syndrome (PCOS), a common endocrine condition, is the leading cause of anovulatory infertility. Objective: Given that common disease-susceptibility variants account for only a small percentage of the estimated PCOS heritability, we tested the hypothesis that rare variants contribute to this deficit in heritability. Design, Setting, and Participants: Unbiased whole-genome sequencing (WGS)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28505284
DOI: 10.1210/jc.2017-00612
PMCID: PMC5546867

Genes

AMH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.PMID 28505284Read ↗

Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women With Polycystic Ovary SyndromeSemantic proximity Read ↗

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

Association between an AMH promoter polymorphism and serum AMH levels in PCOS patientsSemantic proximity Read ↗

The Role of AMH and AMHR2 Variants in Polycystic Ovary Syndrome: ‘A Comprehensive Analysis’Semantic proximity Read ↗

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.Semantic proximity Read ↗

Genome-wide association study identifies common and low-frequency variants at the AMH gene locus that strongly predict serum AMH levels in males.Semantic proximity Read ↗

The role of AMH and its receptor SNP in the pathogenesis of PCOS.Semantic proximity Read ↗

POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Semantic proximity Read ↗

Functional analysis of rare anti-Müllerian hormone protein-altering variants identified in women with PCOSSemantic proximity Read ↗

Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Müllerian hormone levels in womenSemantic proximity Read ↗

Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Müllerian hormone levels in womenSemantic proximity Read ↗

The Role of Anti-Müllerian Hormone in the Characterization of the Different Polycystic Ovary Syndrome Phenotypes.Semantic proximity Read ↗

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