Abstract
Considering the immunological impairment in age-related macular degeneration (AMD), we aimed to determine the associations of IL-9 rs1859430, rs2069870, rs11741137, rs2069885, and rs2069884 and IL-10 rs1800871, rs1800872, and rs1800896 polymorphisms and their haplotypes, as well as the serum levels of IL-9 and IL-10 with AMD. 1209 participants were enrolled in our study. SNPs were genotyped using TaqMan SNP genotyping assays by real-time PCR method. IL-9 and IL-10 serum levels were evaluated using ELISA kits. Our study results have shown that haplotypes A-G-C-G-G and G-A-T-A-T of IL-9 SNPs are associated with the decreased odds of early AMD occurrence (p = 0.035 and p = 0.015, respectively). A set of rare haplotypes was associated with the decreased odds of exudative AMD occurrence (p = 0.033). Also, IL-10 serum levels were lower in exudative AMD than in controls (p = 0.049), patients with early AMD (p = 0.017), and atrophic AMD (p = 0.008). Furthermore, exudative AMD patients with IL-10 rs1800896 CT and TT genotypes had lower IL-10 serum concentrations than those with wild-type (CC) genotype (p = 0.048). In conclusion, our study suggests that IL-10 serum levels can be associated with a minor allele at IL-10 rs1800896 and exudative AMD. The haplotypes of IL-9 SNPs were also associated with the decreased odds of early and exudative AMD.
Highlights
Inflammation is a typical process involved in the pathogenesis of many diseases
We evaluated the distributions of rs1859430, rs2069870, rs11741137, rs2069885, rs2069884, rs1800871, rs1800872, and rs1800896 genotypes in the control group using the Hardy-Weinberg equilibrium (HWE)
The analysis showed that IL-9 rs1859430 geographic atrophy (GA) genotype was associated with 30% decreased odds of early age-related macular degeneration (AMD) (OR = 0:700; confidence interval (CI): 0.507-0.966; p = 0:030) under the codominant model, and about 33% decreased under the overdominant model after adjustment for gender (OR = 0:673; CI: 0.490-0.925; p = 0:015)
Summary
While the inflammation is characterized as a signal transfer cascade which helps to identify and eliminate foreign materials and induce tissue recovery [1], the longterm inflammation and excessive proinflammatory molecule excretion can cause chronic conditions, such as cancer [2], type 2 diabetes mellitus [3], and neurodegenerative disorders [4], including age-related macular degeneration (AMD) [5]. AMD is a worldwide leading cause of progressive and irreversible blindness affecting 1 out of 4 people older than 75 years in developed countries [6]. Increasing age, female gender, and ethnicity with the highest prevalence in Europeans at 12.3–30% have been pinpointed as relevant risk factors [13, 14]
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