Abstract
AIM: To examine the association of genetic polymorphisms (-308) G/A TNF alpha, (+250) A/G Lta, (+36) A/G TNFR1, (+1663) A/G TNFR2 with the development of primary open angle glaucoma (POAG) among people in Central Russia.
METHODS: The study sample included 443 individuals, of which 252 patients with POAG and 191 individuals in the control group. Genotyping of (-308) G/A TNFa, (+250) A/G Lta, (+36) A/G TNFR1, (+1663) A/G TNFR2 was performed using polymerase chain reaction. The distribution of alleles and genotypes of the studied DNA markers in the groups was examined by 2x2 contingency tables and x(2) with the Yates's correction for continuity and odds ratios (OR) with 95% confidence intervals (CI).
RESULTS: Allele (-308)G TNF alpha (p=0.01, OR=1.78, 95% CI 1.12-2.85) was identified as a risk factor for POAG. Homozygotes (-308) AA TNFa are at a lowest risk for development of the disease (p=0.01, OR=0.0005). The following combination of genetic variants of cytokines were associated with a reduced risk of POAG: (+1663) A TNFR2 and (+250) G Lta (OR=0.34).
CONCLUSION: Genetic polymorphisms (-308) G/A TNFa, (+250) A/G Lta, (+1663) A/G TNFR2 associated with the development of POAG in the population of Central Russia.