Article
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Nature communications - 16 Sept 2014
Timpson Nicholas J, Walter Klaudia, Min Josine L, Tachmazidou Ioanna, Malerba Giovanni, Shin So-Youn, Chen Lu, Futema Marta, Southam Lorraine, Iotchkova Valentina, Cocca Massimiliano, Huang Jie, Memari Yasin, McCarthy Shane, Danecek Petr, Muddyman Dawn, Mangino Massimo, Menni Cristina, Perry John R B, Ring Susan M, Gaye Amadou, Dedoussis George, Farmaki Aliki-Eleni, Burton Paul, Talmud Philippa J, Gambaro Giovanni, Spector Tim D, Smith George Davey, Durbin Richard, Richards J Brent, Humphries Steve E, Zeggini Eleftheria, Soranzo Nicole
Abstract excerpt
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...
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