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A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

Abstract:

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 ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/ncomms3872

Authors


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Name:
European Research Council
Grant:
ERC-2011-StG 280559-SEPI
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Name:
Wellcome Trust
Grant:
098051
Publisher:
Nature Publishing Group
Journal:
Nature communications More from this journal
Volume:
4
Pages:
2872
Publication date:
2013-01-01
DOI:
EISSN:
2041-1723
ISSN:
2041-1723
Language:
English
Keywords:
Pubs id:
pubs:444130
UUID:
uuid:6f7c8c55-86cf-48ce-881e-cf019aed5371
Local pid:
pubs:444130
Source identifiers:
444130
Deposit date:
2014-05-12

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