Exome Array Analysis of Nuclear Lens Opacity.

ABSTRACT:

Purpose

Nuclear cataract is the most common subtype of age-related cataract, the leading cause of blindness worldwide. It results from advanced nuclear sclerosis, or opacity in the center of the optic lens, and is affected by both genetic and environmental risk factors, including smoking. We sought to understand the genetic factors associated with nuclear sclerosis through interrogation of rare and low frequency coding variants using exome array data.

Methods

We analyzed Illumina Human Exome Array data for 1,488 participants of European ancestry in the Beaver Dam Eye Study who were without cataract surgery for association with nuclear sclerosis grade, controlling for age and sex. We performed single-variant regression analysis for 32,138 variants with minor allele frequency

SUBMITTER: Loomis SJ 

PROVIDER: S-EPMC5851868 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature