Ontology highlight
ABSTRACT:
SUBMITTER: Timpson NJ
PROVIDER: S-EPMC4167609 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Timpson Nicholas J NJ Walter Klaudia K Min Josine L JL Tachmazidou Ioanna I Malerba Giovanni G Shin So-Youn SY Chen Lu L Futema Marta M Southam Lorraine L Iotchkova Valentina V Cocca Massimiliano M Huang Jie J Memari Yasin Y McCarthy Shane S Danecek Petr P Muddyman Dawn D Mangino Massimo M Menni Cristina C Perry John R B JR Ring Susan M SM Gaye Amadou A Dedoussis George G Farmaki Aliki-Eleni AE Burton Paul P Talmud Philippa J PJ Gambaro Giovanni G Spector Tim D TD Smith George Davey GD Durbin Richard R Richards J Brent JB Humphries Steve E SE Zeggini Eleftheria E Soranzo Nicole N
Nature communications 20140916
The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (-1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10(-8))) discovered in 3,202 individuals with low read-depth, whole-genome sequence. We replicate this in 12,831 participants from five additional samples of Nort ...[more]