Toll-Like Receptors 2 and 4 Polymorphisms in Age-Related Macular Degeneration

Abstract

Purpose: Age-related macular degeneration (AMD) is a complex disorder with multifactorial etiology, caused by a combination of genetic and environmental factors. Innate immunity appears to play a key role in the pathogenesis of AMD. The purpose of this study was to determine whether common variation in the human toll-like receptors (TLRs) 2 and 4 alters the risk of AMD.Patients and methods: A total of 183 patients with AMD and 200 disease-free control subjects were enrolled. The genotyping of polymorphisms TLR2 (TLR2-Arg753Gln: rs5743708) and TLR4 (TLR4-Asp299Gly: rs4986790; TLR4-Thr399Ile: rs4986791) were done using real-time PCR.Results: TLR2 Arg753Gln genotype had approximately four times greater risk of AMD compared with TLR2 Arg753Arg genotype (OR=3.88; 95% CI: 1.76-8.75, p=0.001). TLR2 Arg753Gln genotype was significantly higher in the patients with dry-type AMD (16%) and wet-type AMD (18%) than in the control (5%) subjects (p=0.005 and p=0.0008, respectively). There were no significant differences in the distribution of TLR4-Asp299Gly and TLR4-Thr399Ile genotypes between AMD patients and controls (p>0.05).Conclusion: Our results suggest that TLR2 polymorphism may contribute to the pathogenesis of AMD.