Aim: To study polymorphisms in promotor regions of (rs1800630), (rs1800629), and (rs361525) in patients with age-related macular degeneration (AMD) and associations of complex genotypes with AMD.
Methods: One hundred and two patients (82 women, 20 men; mean age 64.2±1.2y) with AMD and 100 healthy age- and sex-matched controls (82 women, 18 men; 60±1.4y) were included in the study. All subjects were Caucasian, all subjects and their parents were inhabitants of Russia. Genomic DNA was obtained from EDTA-preserved blood using the standard phenol-chloroform method. Polymorphisms were detected by polymerase chain reaction followed by the restriction fragment length polymorphism method. The following genotypes were studied:
Results: Differences in genotypes frequencies in patients with AMD and healthy controls were not found. The distribution of and genotypes was significantly different between the studied group and the controls [odds ratios (OR) =0.22, =0.0287 and OR=2.91, =0.0063, respectively]. and genotypes were associated with the increased risk of AMD (OR=2.48, =0.0332 and OR=2.51, =0.0187, respectively). Five genotypes combinations appeared to be protective.
Conclusion: In the present study, single nucleotide polymorphisms and complex polymorphisms of one of the key inflammatory cytokines TNF-α, and a number of significant associations of these polymorphisms with AMD in Russian population have been shown. Complex analysis of genotypes could be important in AMD risk factors detection and studying pathogenesis.
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| http://dx.doi.org/10.18240/ijo.2019.01.04 | DOI Listing |
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