Aims: To investigate whether the single-nucleotide polymorphism (SNP) rs5743704 in the toll-like receptor 2 gene is associated with primary open-angle glaucoma (POAG) or any of its clinical indices in a Saudi cohort.
Method: Ninety-five unrelated POAG cases and 95 controls of Saudi origin were genotyped utilizing a TaqMan(®) assay. The association between genotypes and various clinical indices important for POAG were investigated.
Results: The genotypic and allelic frequencies among cases were not significantly different when compared to controls. The minor allele frequency was 0.021 in cases and 0.011 in controls. No significant association was seen with intraocular pressure and cup/disc ratio. However, carriers of the C/A genotype had higher number of anti-glaucoma medications compared to controls (p = 0.04).
Conclusion: SNP rs5773704 is not associated with POAG in a Saudi population. Despite sample size limitation, the association of the minor allele A with higher number of anti-glaucoma medications suggests a possible indirect role for this SNP in predicting disease severity.