Recent publications on Residual Risk

In this study, fine gene mapping from 95 lipid genome wide association studies (GWAS) loci in people with extremely high and low to normal plasma lipid levels led to the identification of one new coding variant associated with elevated triglycerides.
 
GWAS for plasma lipid levels have mapped numerous genomic loci, with each region often containing many protein-coding genes. Targeted re-sequencing of exons is a strategy to pinpoint causal variants and genes. The study used this approach in individuals with extremely high as well as low to normal levels of low-density lipoprotein cholesterol (n = 311), triglycerides (n = 308), and high-density lipoprotein cholesterol (n = 684), and tested whether coding sequence variants, individually or aggregated within a gene, were associated with plasma lipid levels. Findings were replicated by sequencing in independent participants (n = 6,424). Overall, the study identified 6 variants with significant associations with plasma lipids; however, only one of these had a novel association with triglycerides (p.Ser147Asn variant in APOA4, 14.3% frequency).
 
In conclusion, these results provide further insight into the genetic control of lipid traits, specifically elevated triglycerides. Fine mapping GWAS loci may, however, have limitations in studying the cause of these signals.