1. A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients.
- Author
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Abu-Amero KK, Azad TA, Mousa A, Osman EA, Sultan T, and Al-Obeidan SA
- Subjects
- Adult, Aged, Aged, 80 and over, Alleles, Case-Control Studies, Catalase metabolism, Female, Genetic Loci, Heterozygote, Homozygote, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Reproducibility of Results, Risk Factors, Saudi Arabia, Glaucoma, Angle-Closure genetics, Promoter Regions, Genetic, Visual Acuity genetics
- Abstract
Background: To Investigate whether the g.4760C>T polymorphism in the promoter region of the catalase gene (CAT) is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population., Methods: 138 unrelated PACG patients and 403 unrelated control subjects from Saudi Arabia were genotyped for a single nucleotide polymorphism (SNP; rs1001179; g.4760C>T) utilizing Taq-Man(®) assay. The association between different genotypes and various clinical indices important for PACG was also investigated., Results: The distribution of different genotypes was comparable between both study groups. The genotype "C/C" was predominant among cafses; 94 (68.1%) and controls; 289 (71.7%). Heterozygous genotype "C/T", was present in 41 (29.7%) of cases and 103 (25.6%) of controls, where the homozygous variant genotype was present in only 3 (2.2%) of cases and 11 (2.7%) of the controls. The distribution of variant allele was similar in both study groups (p= 0.568). Interestingly, there was a trend of association between the type of the variant (homozygous variant, heterozygous and wildtype genotype) and one important parameter for PACG, which is visual acuity. The visual acuity increase was; 0.62 (±0.74), 0.88 (±0.88) and 1.27 (±0.95) in patients carrying the "C/C", "C/T" and "T/T" genotypes respectively, which was statistically significant in both ANOVA and pairwise individual T tests (p = 0.022, 0.031 and 0.039) when compared to controls., Conclusions: This variant is possibly associated with visual acuity in PACG patients and thus had the potential to be used as a parameter for assessing PACG severity.
- Published
- 2013
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