Identifying rare variants associated with hypertension using the C-alpha test.

ABSTRACT: Important rare variants may be near significantly associated common variants based on genetic distance. For this reason, we conducted an analysis of rare variants informed by tests of single-marker association at loci with common variants. We identified highly significant common variants within chromosome 3, as well as rare variants around these locations. Based on a predetermined window size, we then analyzed these rare variants with the C-alpha test to determine significant associations with hypertension. We found significant rare variants around common variants; however, the C-alpha test was sensitive to the specified window size. When comparing markers in genes to markers not in genes, we found that markers not in genes had more significant C-alpha test p values than markers in genes.

SUBMITTER: Faino A 

PROVIDER: S-EPMC4143634 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature