Aim: To establish possible association between age-related macular degeneration (AMD) and cytokine genotype polymorphisms; for that promoter regions of a number of cytokine genes were studied, namely, TNF-A863C, TNF-A308G, TNF-A238G, IL1β-C-31T, IL4-C590T, IL6-C174G, and IL10A-1082G.
Material And Methods: A total of 102 AMD and 100 non-AMD participants in the same age range were examined at the Novosibirsk branch of the Academician S.N. Fyodorov IRTC «Eye Microsurgery». In all cases restriction fragment length polymorphism analysis was performed.
Results: The frequency of TNF-308 GA and IL10-1082 GG genotypes was higher in AMD patients than in the controls, while the TNF-308 АA minor genotype has proved protective against the disease. Moreover, AMD has been found to be positively related to 48 genotypic combinations and negatively - to 32 (with specificity as high as 98-99%). The odds ratio was also higher in combination analysis as compared to monogenotypes.
Conclusion: Complex genetic analysis of cytokines gives an idea of the balance of proinflammatory and anti-inflammatory cytokines in AMD and, therefore, plays an important role in studying the disease pathogenesis and exploring therapeutic options.
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