Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies. These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels by analyzing about 150,000 individuals. Our study resulted in the identification and replication of five new associations with circulating lipid levels at loci within genes that can be linked biologically to lipid metabolism. One of the variants we find associated with triglycerides, is rs116843064, a variant that changes the amino acid glutamic acid into lysine (Glu40Lys) and is predicted to be damaging for the structure and function of the protein. (By Elisa van Leeuwen, )


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