Polymorphic variants of , , and genes and the risk of glaucoma in an Iranian population.

AIM

To examine whether rs2472493 and rs248032 in the gene, rs3785176 in the gene, and rs11827818 in the gene contribute to primary open angle glaucoma (POAG) in an Iranian population.

METHODS

Totally 82 POAG patients and 172 healthy controls were enrolled. The selected gene polymorphisms were analyzed using TaqMan SNP Genotyping Assay using deoxyribonucleic acid (DNA) extracted from blood samples. Allelic and genotypic frequencies were evaluated using the Chi-square test. The association between the genotypes of single nucleotide polymorphisms (SNPs) and POAG was assessed using multiple logistic regression models. The linkage disequilibrium and haplotype block structure were assessed using the Haploview 4.2 software.

RESULTS

The results showed a significant association between allele frequencies of rs2472493 in the gene locus and POAG [odds ratio (OR)=1.58, 95% confidence intervals (CI)=1.04-2.39, =0.031]. The rs3785176 in the gene was also associated with POAG in additive and over dominant genotypes. Moreover, haplotype analysis showed a significant association of two estimated haplotypes of rs2472493/rs2487032 with POAG. The AA haplotype showed a reduction in POAG risk (OR=0.41, 95%CI=0.202-0.834, =0.012), while the GG haplotype was associated with the disease. In addition, this study could not discover any association between genotype and allele frequency of rs248032 in the gene, and rs11827818 in gene and POAG.

CONCLUSION

rs2472493 in the gene can be considered a genetic susceptibility locus for POAG. The haplotype constructed with gene SNPs (rs2472493/rs2487032) is associated with POAG.