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BACKGROUND: To investigate whether polymorphism rs540782 on chromsome 1, in close proximity to the Zona Pellucida Glycoprotein 4 (ZP4) gene, is a risk factor for primary open angle glaucoma (POAG). METHOD: The study genotyped 92 unrelated POAG cases and 95 control subjects from Saudi Arabia using Taq-Man® assay. RESULTS: The genotype frequency distribution did not deviate significantly from the Hardy-Weinberg equilibrium (p > 0.05). Overall, both the genotype and allele frequencies were not significantly different between cases and controls. The minor 'C' allele frequency was 49.4%, which was comparable to the Japanese population and higher than the Indian and Afro-Caribbean populations. Similarly, no significant association was found between genotypes and systemic diseases and health awareness/behavior domain variables. Importantly, glaucoma specific indices, such as intraocular pressure, cup/disc ratio and number of anti-glaucoma medication, also showed no statistically significant effect of genotypes within POAG cases. CONCLUSION: Polymorphism rs540782 is not a risk factor for POAG in the Saudi cohort.
Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, 11411, Saudi Arabia.
Full article3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)