Abstract
Objective: Recent studies have demonstrated an association of single nucleotide polymorphisms (SNPs) rs35934224 in TXNRD2 and rs6478746 near LMX1B genes in primary open-angle glaucoma (POAG) among Europeans. We performed a retrospective, case-control study to investigate the association between the rs35934224 (TXNRD2) and rs6478746 (LMX1B) and POAG in a middle-eastern population from Saudi Arabia.Methods: DNA from 399 participants consisting of 150 POAG cases (83 males and 67 females) and 249 controls (135 males and 114 females) were genotyped using TaqMan® real-time PCR. Statistical tests were performed to evaluate genetic association with POAG and related clinical indices.Results: The minor allele frequency (MAF) of rs35934224[T] was 0.19 and 0.20 in POAG and controls, respectively. The difference was non-significant (odds ratio [OR] = 1.08, 95% confidence interval [CI] = 0.75–1.55, p = 0.663). Likewise, rs6478746[G] MAF was 0.12 in both cases and controls with no statistical significance (OR = 1.02, 95% CI = 0.67–1.56, p = 0.910). Genotype analysis showed no association with POAG for both the SNPs in combined and gender-stratified groups. Regression analysis showed no significant effect of risk factors such as age, sex, rs35934224, and rs6478746 genotypes on POAG outcome. Furthermore, both the SNPs showed no significant genotype effect on clinical indices such as intraocular pressure (IOP) and cup/disc ratio in POAG patients.Conclusions: Rs35934224 in TXNRD2 and rs6478746 near LMX1B genes are not associated with POAG or related clinical indices such as IOP and cup/disc ratio in a Saudi cohort. Since the study is limited by sample size further investigations are needed to confirm these results in a larger cohort.
Highlights
Primary open-angle glaucoma (POAG) is among the most common subtype of glaucoma worldwide, including the middleeast (Al Obeidan et al, 2011)
Genome-wide association studies (GWAS) have identified several significant associations of POAG or its endophenotypic traits with single nucleotide polymorphisms (SNPs) in different genes/loci (AbuAmero et al, 2015; Trivli et al, 2020). These include the rs35934224 in the thioredoxin reductase 2 (TXNRD2) genomic region (Bailey et al, 2016), and rs6478746 on chromosome 9 near LIM homeobox transcription factor 1 beta (LMX1B) and an uncharacterized RNA gene, LOC105376277 identified among the POAG patients of European ancestry (Gharahkhani et al, 2018)
Rs35934224 is located in TXNRD2 gene encoding a nuclearencoded mitochondrial protein that plays a crucial role in regulating cellular redox homeostasis, mainly by scavenging reactive oxygen species (ROS) in the mitochondria
Summary
Recent studies have demonstrated an association of single nucleotide polymorphisms (SNPs) rs35934224 in TXNRD2 and rs6478746 near LMX1B genes in primary open-angle glaucoma (POAG) among Europeans. Case-control study to investigate the association between the rs35934224 (TXNRD2) and rs6478746 (LMX1B) and POAG in a middle-eastern population from Saudi Arabia
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