The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects.

ABSTRACT:

Purpose

The purpose of this study was to identify genetic variants on chromosome X associated with intraocular pressure (IOP) and determine if they possess any sex-specific effects.

Methods

Association analyses were performed across chromosome X using 102,407 participants from the UK Biobank. Replication and validation analyses were conducted in an additional 6599 participants from the EPIC-Norfolk cohort, and an independent 331,682 participants from the UK Biobank.

Results

We identified three loci associated with IOP at genomewide significance (P < 5 × 10-8), located within or near the following genes: MXRA5 (rs2107482, P = 7.1 × 10-11), GPM6B (rs66819623, P = 6.9 × 10-10), NDP, and EFHC2 (rs12558081, P = 4.9 × 10-11). Alleles associated with increased IOP were also

SUBMITTER: Simcoe MJ 

PROVIDER: S-EPMC7490223 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature