Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.

ABSTRACT: A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these families, our experiment was powered to detect association. Using gene expression data on 21,677 transcripts for 643 pedigree members, we identified evidence for large-effect rare-variant cis-expression quantitative trait loci that could not be detected in population studies, validating our approach. H

SUBMITTER: Jun G 

PROVIDER: S-EPMC5777025 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature