Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
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Accepted version
Accepted version
Author(s)
Type
Journal Article
Abstract
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
Date Issued
2019-03-01
Date Acceptance
2018-12-17
Citation
Nature Genetics, 2019, 51 (3), pp.452-469
ISSN
1061-4036
Publisher
Nature Research
Start Page
452
End Page
469
Journal / Book Title
Nature Genetics
Volume
51
Issue
3
Copyright Statement
© 2019 Springer Nature Publishing AG
Sponsor
Home Office
Medical Research Council (MRC)
Medical Research Council (MRC)
Medical Research Council (MRC)
National Institute for Health Research
Imperial College Healthcare NHS Trust- BRC Funding
UK DRI Ltd
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/30778226
PII: 10.1038/s41588-018-0334-2
Grant Number
PG0484
MR/L01632X/1
MR/L01632X/1
MR/L01341X/1
RTJ6219303-1
RDF03
N/A
Subjects
CHD Exome+ Consortium
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
EPIC-CVD Consortium
ExomeBP Consortium
Global Lipids Genetic Consortium
GoT2D Genes Consortium
InterAct
ReproGen Consortium
T2D-Genes Consortium
MAGIC Investigators
11 Medical And Health Sciences
06 Biological Sciences
Developmental Biology
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2019-02-18