2 documents found, page 1 of 1
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-po...
Rossi, Niccolò; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic...
Lipid traits and whole genome sequencing association studies
Rossi, Niccolò; Bourbon, Mafalda; Falchi, MarioBackground: Genome-wide association studies (GWAS) have significantly advanced the genetic study of complex human traits. With the advent of next generation sequencing technologies, whole genome sequencing based GWAS are expected to provide further opportunities for the discovery of low frequency and rare variants with a large effect size. Moreover heritability of lipid traits has been estimated from 30% to 70 ...