Analysis of toll-like receptor rs4986790 polymorphism in Saudi patients with primary open angle glaucoma

作者：Abu Amero Khaled K^*; Kondkar Altaf A; Mousa Ahmed; Azad Taif A; Sultan Tahira; Osman Essam A; Al Obeidan Saleh A

来源：Ophthalmic Genetics, 2017, 38(2): 133-137.

DOI：10.3109/13816810.2016.1151900

• Primary open angle glaucoma
• rs4986790
• Saudi Arabia
• toll-like receptors

Background: To investigate whether SNP rs4986790 in toll-like receptors (TLRs) is a risk factor for primary open angle glaucoma (POAG) in a Saudi population.Materials and methods: A cohort of 85 unrelated POAG patients and 95 unrelated control subjects from Saudi Arabia were genotyped utilizing Taq-Man (R) assay. The association between mutant genotypes and various clinical indices important for POAG was investigated.Results: Among cases, the normal pattern (A/A) was detected in 70 (82.4%) of the subjects, A/G in 14 (16.5%) and G/G in one subject only (1.2%). Among controls, prevalence of the genotype (A/A) was detected in 86 (90.5%), the (A/G) genotype in 8 (8.4%) and homozygous mutated genotype (G/G) in 1 (1.1%) subjects. Comparing cases to controls, the odds ratio of having heterozygous mutation (A/G) was 2.15 [95% CI: 0.853-5.417], which was not significant (p = 0.114). The odds ratio of having homozygous mutation (G/G) was 1.22 [95% CI: 0.075-19.99], which was statistically non-significant (p = 0.568). Likewise, the presence of the mutated allele (G) was non-significantly different between cases and controls (p = 0.154). Comparing cases to controls as regards co-morbidity with other systemic diseases, there were no statistically significant differences between groups in all assessed diseases except for a family history of glaucoma (p = 0.014)Conclusions: In conclusion, we could not detect any direct link between genotypes or allele frequencies of SNP rs4986790 in the TLR4 gene and POAG. In contrast, genotype (A/A) may be protective against POAG especially among individuals with no family history of glaucoma.

• 出版日期2017-4