Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.

ABSTRACT: Resequencing genes in individuals at extremes of the population distribution constitutes a powerful and efficient strategy to identify sequence variants associated with complex traits. An excess of sequence variants at one extreme relative to the other that is not due to chance or to population stratification constitutes evidence for genetic association and implies the presence of functionally significant sequence variants. Recently, we reported that non-synonymous sequence variants in Niemann-Pick type C1-like 1 (NPC1L1), an intestinal cholesterol transporter, were significantly more common among individuals with low cholesterol absorption than in those with high cholesterol absorption. To determine whether sequence variations identified in individuals with low cholesterol absorption affe

SUBMITTER: Fahmi S 

PROVIDER: S-EPMC2441721 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature