Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.

ABSTRACT:

Purpose

Large copy number variations (CNV) can contribute to increased burden for neurodegenerative diseases. In this study, we analyzed the genome-wide burden of large CNVs > 100 kb in primary open angle glaucoma (POAG), a neurodegenerative disease of the eye that is the largest cause of irreversible blindness.

Methods

Genome-wide analysis of CNVs > 100 kb were analyzed in a total of 1720 individuals, including an Indian cohort (347 POAG cases and 345 controls) and a Caucasian cohort (624 cases and 404 controls). All the CNV data were obtained from experiments performed on Illumina 660W-Quad (infinium) arrays.

Results

We observed that for both the populations CNVs > 1 Mb was significantly enriched for gene-rich regions unique to the POAG cases (P < 10(-11)). In the I

SUBMITTER: Kaurani L 

PROVIDER: S-EPMC4039367 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature