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Updated: Apr 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Identifying rare variants associated with hypertension using the C-alpha test
Anna Faino1, Amber Powell1, André Williams1
1Department of Biostatistics and Bioinformatics, National Jewish Health, 1400 Jackson Street, Denver, Colorado 80206, USA.
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.
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