NDLI: Genome-wide association study identifies common and low-frequency variants at the AMH gene locus that strongly predict serum AMH levels in males

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

Content Provider	PubMed Central
Author	Perry, John R. B. Mcmahon, George Day, Felix R. Ring, Susan M. Nelson, Scott M. Lawlor, Debbie A.
Copyright Year	2015
Abstract	Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females. Due to a paucity of adequately sized studies, the genetic determinants of circulating AMH levels are poorly characterized. In samples from 2815 adolescents aged 15 from the ALSPAC study, we performed the first genome-wide association study of serum AMH levels across a set of ∼9 m ‘1000 Genomes Reference Panel’ imputed genetic variants. Genetic variants at the AMH protein-coding gene showed considerable allelic heterogeneity, with both common variants [rs4807216 (P Male = 2 × 10−49, Beta: ∼0.9 SDs per allele), rs8112524 (P Male = 3 × 10−8, Beta: ∼0.25)] and low-frequency variants [rs2385821 (P Male = 6 × 10−31, Beta: ∼1.2, frequency 3.6%)] independently associated with apparently large effect sizes in males, but not females. For all three SNPs, we highlight mechanistic links to AMH gene function and demonstrate highly significant sex interactions (P Het 0.0003–6.3 × 10−12), culminating in contrasting estimates of trait variance explained (24.5% in males versus 0.8% in females). Using these SNPs as a genetic proxy for AMH levels, we found no evidence in additional datasets to support a biological role for AMH in complex traits and diseases in men.
Related Links	http://dx.doi.org/10.1093/hmg/ddv465
Ending Page	388
Page Count	7
Starting Page	382
File Format	PDF
ISSN	14602083
e-ISSN	14602083
Journal	Human Molecular Genetics
Issue Number	2
Volume Number	25
Language	English
Publisher	Oxford University Press
Publisher Date	2016-01-15
Access Restriction	Open
Rights Holder	Oxford University Press
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Genetics (clinical)

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