rs10407022

This is a variant in the AMH gene that changes a serine to an isoleucine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

pulse pressure measurement

Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)

Allele T

OR 0.23

p 3.0e-8

N 192,763

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

Persistent Mullerian duct syndrome (PMDS)

View on ClinVar →

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Research that mentions this SNP (1)

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Haplotype analysis of single nucleotide polymorphisms in anti-Müllerian hormone gene in Chinese PCOS women

AssociationN=987Pei Xu et al.(2013)· Archives of Gynecology and Obstetrics

A case-control study of 475 PCOS patients and 512 controls in a Chinese Han population examined two tagging SNPs (rs10407022 and rs8112524) in the AMH gene. While individual SNPs showed no significant association with PCOS, haplotype analysis revealed that the TA haplotype increased PCOS susceptibility (OR=4.996, P=0.013) while the GA haplotype was protective (OR=0.117, P<0.001).

Traits studied:Polycystic ovary syndrome (PCOS)

DOI Metascience Observatory

About AMH

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]