期刊
NATURE COMMUNICATIONS
卷 4, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/ncomms3872
关键词
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资金
- Wellcome Trust [098051, WT091310]
- European Research Council [ERC-2011-StG 280559-SEPI]
- [R01 HL104193]
- [NIH U01 HL072515]
- [NIH U01 HL105198]
- [NIH P30 DK072488]
- [NIH K01 HL116770]
- National Institute for Health Research [NF-SI-0510-10268] Funding Source: researchfish
Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here we genotype 1,267 individuals from a Greek population isolate on the Illumina HumanExome Beadchip, in search of functional coding variants associated with lipids traits. We find genome-wide significant evidence for association between R19X, a functional variant in APOC3, with increased high-density lipoprotein and decreased triglycerides levels. Approximately 3.8% of individuals are heterozygous for this cardioprotective variant, which was previously thought to be private to the Amish founder population. R19X is rare (<0.05% frequency) in outbred European populations. The increased frequency of R19X enables discovery of this lipid traits signal at genome-wide significance in a small sample size. This work exemplifies the value of isolated populations in successfully detecting transferable rare variant associations of high medical relevance.
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