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Genetic analysis of pseudoexfoliation glaucoma risk in an Irish population
Author(s) -
Eivers Sarah,
Greene Alison,
Dervan Edward,
O’ Brien Colm,
Wallace Deborah
Publication year - 2019
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2019.5165
Subject(s) - single nucleotide polymorphism , haplotype , glaucoma , pseudoexfoliation syndrome , genotype , genetics , biology , population , snp , risk factor , medicine , ophthalmology , gene , environmental health
Purpose Glaucoma is an optic neuropathy and a leading cause of irreversible blindness worldwide. Although there are many factors that may contribute to disease predisposition, severity and progression, pseudoexfoliation (PXF) syndrome represents a significant cause for developing open angle glaucoma. Single nucleotide polymorphisms (SNPs) within the lysyl oxidase like (LOXL) 1 gene have been identified as a major risk factor for PXF syndrome and PXF glaucoma (PXFG), specifically SNPs within the exon 1 and intron 1 regions of the gene. The common haplotype (G‐G) of 2 SNPs within exon 1, rs1048661 and rs3825942, are the strongest associated risk factor for PXF in Caucasian populations. However this risk haplotype is switched in some populations. Herein, a study was undertaken to genotype an Irish population for PXF risk‐associated SNPs within the LOXL1 gene. Methods Patient cohorts of PXFG, PXF and cataract controls were recruited following informed consent. Patients from each cohort were then genotyped for the 2 high risk associated SNPs within exon 1 (rs1048661 and rs3825942), along with 3 SNPs within intron 1 (rs1550437, rs6495085 and rs6495086) of the LOXL1 gene. Results The high risk haplotype (G‐G) was most prevalent in PXFG patients compared to control patients. The low risk (G‐A) haplotype was only seen in control patients. Additionally, genotypes of several SNPs within intron 1 were also found to be present at higher frequencies within the PXFG/PXF patient cohort compared to control patients. Conclusion Collectively, these results represent the first study to genotype PXF‐associated SNPs within LOXL1 in an Irish population and aids in our understanding of the genetic component of developing PXF and PXFG.