Ontology highlight
ABSTRACT:
SUBMITTER: Johansen CT
PROVIDER: S-EPMC3017369 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Johansen Christopher T CT Wang Jian J Lanktree Matthew B MB Cao Henian H McIntyre Adam D AD Ban Matthew R MR Martins Rebecca A RA Kennedy Brooke A BA Hassell Reina G RG Visser Maartje E ME Schwartz Stephen M SM Voight Benjamin F BF Elosua Roberto R Salomaa Veikko V O'Donnell Christopher J CJ Dallinga-Thie Geesje M GM Anand Sonia S SS Yusuf Salim S Huff Murray W MW Kathiresan Sekar S Hegele Robert A RA
Nature genetics 20100725 8
Genome-wide association studies (GWAS) have identified multiple loci associated with plasma lipid concentrations. Common variants at these loci together explain <10% of variation in each lipid trait. Rare variants with large individual effects may also contribute to the heritability of lipid traits; however, the extent to which rare variants affect lipid phenotypes remains to be determined. Here we show an accumulation of rare variants, or a mutation skew, in GWAS-identified genes in individuals ...[more]