title: 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.
authors.affiliation: Department of Biostatistics and Bioinformatics, National Jewish Health, 1400 Jackson Street, Denver, Colorado 80206, USA.
authors.forename: Anna
authors.initials: A
authors.lastname: Faino
authors.affiliation: Department of Biostatistics and Bioinformatics, National Jewish Health, 1400 Jackson Street, Denver, Colorado 80206, USA.
authors.forename: Amber
authors.initials: A
authors.lastname: Powell
authors.affiliation: Department of Biostatistics and Bioinformatics, National Jewish Health, 1400 Jackson Street, Denver, Colorado 80206, USA.
authors.forename: André
authors.initials: A
authors.lastname: Williams
authors.affiliation: Department of Biostatistics and Bioinformatics, National Jewish Health, 1400 Jackson Street, Denver, Colorado 80206, USA.
authors.forename: Lori
authors.initials: L
authors.lastname: Silveira