Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation.

ABSTRACT: Previous genome-wide association studies (GWAS) have identified several variants associated with platelet function phenotypes; however, the proportion of variance explained by the identified variants is mostly small. Rare coding variants, particularly those with high potential for impact on protein structure/function, may have substantial impact on phenotype but are difficult to detect by GWAS. The main purpose of this study was to identify low frequency or rare variants associated with platelet function using genotype data from the Illumina HumanExome Bead Chip. Three family-based cohorts of European ancestry, including ~4,000 total subjects, comprised the discovery cohort and two independent cohorts, one of European and one of African American ancestry, were used for replication. Optical

SUBMITTER: Chen MH 

PROVIDER: S-EPMC6214797 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature