Article
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.
Nature genetics - 1 Apr 2014
Holmen Oddgeir L, Zhang He, Fan Yanbo, Hovelson Daniel H, Schmidt Ellen M, Zhou Wei, Guo Yanhong, Zhang Ji, Langhammer Arnulf, Løchen Maja-Lisa, Ganesh Santhi K, Vatten Lars, Skorpen Frank, Dalen Håvard, Zhang Jifeng, Pennathur Subramaniam, Chen Jin, Platou Carl, Mathiesen Ellisiv B, Wilsgaard Tom, Njølstad Inger, Boehnke Michael, Chen Y Eugene, Abecasis Gonçalo R, Hveem Kristian, Willer Cristen J
Abstract excerpt
Blood lipid levels are heritable, treatable risk factors for cardiovascular disease. We systematically assessed genome-wide coding variation to identify new genes influencing lipid traits, fine map known lipid loci and evaluate whether low-frequency variants with large effects exist for these traits. Using an exome array, we genotyped 80,137 coding variants in 5,643 Norwegians. We followed up 18 variants in 4,666...
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