A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients

BMC Medical Genetics

Saleh A Al-Obeidan²  Tahira Sultan²  Essam A Osman²  Ahmed Mousa²  Taif Anwar Azad²  Khaled K Abu-Amero¹ 

[1] Department of Ophthalmology, College of Medicine, Jacksonville, FL, USA;Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, PO Box 245, Riyadh 11411, Saudi Arabia

关键词: Saudi Arabia;    PACG;    Catalase;   

Others  :  1122669
DOI  :  10.1186/1471-2350-14-84

 received in 2013-05-29, accepted in 2013-08-20,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Abu-Amero et al.; licensee BioMed Central Ltd.

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