| Title: | The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects |
| Journal: | Investigative Ophthalmology & Visual Science |
| Published: | 14 Sep 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32926103/ |
| DOI: | https://doi.org/10.1167/iovs.61.11.20 |
| URL: | https://iovs.arvojournals.org/arvo/content_public/journal/iovs/938490/i1552-5783-61-11-20_1599904429.1685.pdf |
| Citations: | 7 (4 in last 2 years) as of 8 Aug 2024 |
Publication 5885
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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.</p>
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.</p>
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 associated with increased risk for primary open-angle glaucoma in an independent sample. Finally, our results indicate that chromosome X genetics most likely do not illicit sex-specific effects on IOP.</p>
Conclusions: In this study, we report the results of genomewide levels of association of three loci on chromosome X with IOP, and provide a framework to include chromosome X in large-scale genomewide association analyses for complex phenotypes.</p>
12 Keywords
- Chromosomes, Human, X
- Female
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Genotype
- Glaucoma, Open-Angle
- Humans
- Intraocular Pressure
- Male
- Phenotype
- Polymorphism, Single Nucleotide
- Sex Factors
6 Authors
- Mark J. Simcoe
- Anthony P. Khawaja
- Omar A. Mahroo
- Christopher J. Hammond
- Pirro G. Hysi
- for the UK Biobank Eye and Vision Consortium
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