ausblenden:
Schlagwörter:
Angiopoietin-like 4 Protein
Angiopoietins/*genetics
Exons/*genetics
Fasting/physiology
Female
Genome, Human/*genetics
Genome-Wide Association Study/methods
Genotype
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide/*genetics
*Complex traits
*Epidemiology
*Genetics
*Genome-wide
*circulating lipid levels
Zusammenfassung:
BACKGROUND: So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). 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. METHODS: We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from approximately 60 000 individuals in the discovery stage and approximately 90 000 samples in the replication stage. RESULTS: Our study resulted in the identification of five new associations with circulating lipid levels at four loci. All four loci are within genes that can be linked biologically to lipid metabolism. One of the variants, rs116843064, is a damaging missense variant within the ANGPTL4 gene. CONCLUSIONS: This study illustrates that GWAS with high-scale imputation may still help us unravel the biological mechanism behind circulating lipid levels.