Associations of SIRT1 rs12778366, FGFR2 rs2981582 and STAT3 rs744166 polymorphisms with early age-related macular degeneration development
| Date Issued |
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2017-10-19 |
Bibliogr.: p. 70
Introduction. Age-related macular degeneration (AMD) is progressive eye condition that affects central part of a retina (macula). Etiology and pathogenesis of the disease are not clear [1]. On the other hand, drusen formation caused by changes in lipid metabolism, inflammation and pathological angiogenesis are considered as main pathological processes in AMD development [2]. The aim of the study was to determine the association of polymorphisms in genes involved in AMD pathogenesis: SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166 and early AMD development. Materials and methods. 284 patients with early AMD and 800 healthy control group subjects were examined. DNA was extracted from peripheral blood leukocytes using DNA salting-out method. Genotyping was carried out using real-time polymerase chain reaction (RT-PCR) method. Statistical analysis was performed with „SPSS version 20.0“. Results. FGFR2 rs2981582 AA genotype compared to GG and GA is associated with decreased risk of early AMD in overall group (p=0.037), as well as in males group (p=0.025). Also, AA compared to GG and to GG and GA genotypes together is associated with decreased risk of early AMD development in younger age (p=0.035 and p=0.014, respectively). GA genotype compared to GG and AA is associated with 1.7-fold increased risk of early AMD (p=0.031). STAT3 rs744166 GG genotype compared to AA, also, to AA and AG genotypes together is associated with decreased risk of early AMD development (p<0.001 and p<0.001, respectively). AG and GG genotypes compared to AA are associated with decreased risk of early AMD development (p=0.041) as well as each G allele (p<0.001). GG genotype compared to AA is associated with decreased risk of early AMD in younger and older age groups (p=0.022, p=0.039, respectively). The same results remain when GG compared to AA and AG genotypes together (p=0.018, p=0.013, respectively). Conclusions. FGFR2 rs2981582 GA .[...].