Abstract
To investigate whether single nucleotide polymorphism (SNP) rs4986791 (C>T) in the toll-like receptor 4 (TLR4) gene is a risk factor for primary open-angle glaucoma (POAG) in the Saudi population.
A case-control study was performed to genotype a cohort of 85 POAG patients and 95 matched healthy controls utilizing TaqMan(®). The association between mutant genotypes and various POAG clinical indices were investigated.
The wild-type (C/C), heterozygous (C/T), and homozygous (T/T) genotypes were observed in 85.9%, 12.9%, and 1.2% POAG cases, respectively, compared to 91.6%, 8.4%, and none, respectively, among controls. The minor allele frequency was 0.076 in cases and 0.042 in controls. Both the genotype and allele frequency among POAG cases and controls did not vary significantly. With the exception of family history of glaucoma (p = 0.032), no significant association of genotypes was seen with age, intraocular pressure, cup/disc ratio, number of antiglaucoma medications, and other systemic comorbidities among the POAG cases.
We did not detect any direct association between genotypes or allele frequencies of SNP rs4986791 in the TLR4 gene and POAG.