The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects.
Invest Ophthalmol Vis Sci
; 61(11): 20, 2020 09 01.
Article
em En
| MEDLINE
| ID: mdl-32926103
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 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.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.
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Base de dados:
MEDLINE
Assunto principal:
Glaucoma de Ângulo Aberto
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Predisposição Genética para Doença
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Polimorfismo de Nucleotídeo Único
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Cromossomos Humanos X
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Pressão Intraocular
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article