Dataset Information
Uk10k_cohort_alspac_rel_2012_06_02-sc-20131101-phenotypes - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000789 | EGA |
REPOSITORIES: EGA
Publications
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.
Nature communications 20130101
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 hig ...[more]