Genetic association study of age‐related macular degeneration in the Spanish population

摘要: Purpose: To investigate new genetic risk factors and replicate reported associations with advanced age-related macular degeneration (AMD) in a prospective case–control study developed Spanish cohort. Methods: Three hundred fifty-three unrelated patients AMD (225 atrophic AMD, 57 neovascular 71 mixed AMD) 282 age-matched controls were included. Functional tagging SNPs 55 candidate genes genotyped using the SNPlex TM genotyping system. Single SNP haplotype association analysis performed to determine possible associations; interaction effects between also investigated. Results: In agreement previous reports, ARMS2 CFH strongly associated studied population. Moreover, both loci influenced independently giving support different pathways implicated pathogenesis. No evidence for of other susceptibility genes, such as CST3, CX3CR1, FBLN5, HMCN1, PON1, SOD2, TLR4, VEGF VLDLR, was detected. However, two additional appear be markers development AMD. A variant located at 3¢ UTR FGF2 gene (rs6820411) highly functional rs3112831 ABCA4 showed marginal disease. Conclusion: We large Our findings show that seem principal contributing our report significant could influence These should confirmed further studies larger cohorts.