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CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

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posted on 2018-01-10, 14:02 authored by Nick Shrine, Martin D Tobin, Louise V Wain, et al
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01–0.2%), with large effects on height (>2.4 cm), weight (>5 kg), and body mass index (BMI) (>3.5 kg/m2). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increase in BMI by 0.14 kg/m2 for each Mb of total deletion burden (P = 2.5 × 10−10, 6.0 × 10−5, and 2.9 × 10−3). Our study provides evidence that the same genes (e.g., MC4R, FIBIN, and FMO5) harbor both common and rare variants affecting body size and that anthropometric traits share genetic loci with developmental and psychiatric disorders.

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Citation

Nature Communications, 2017, 8: 744

Author affiliation

/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/School of Medicine/Department of Health Sciences

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  • VoR (Version of Record)

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Nature Communications

Publisher

Nature Publishing Group

eissn

2041-1723

Acceptance date

2017-07-10

Copyright date

2017

Available date

2018-01-10

Publisher version

https://www.nature.com/articles/s41467-017-00556-x

Language

en

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