The association of FBLN 5 polymorphisms with age-related macular degeneration susceptibility in the population of northern China

Objectives: This study are intended to explore the effect of FBLN5 polymorphisms on age-related macular degeneration (AMD) susceptibility and provide evidence for the pathogenesis of AMD. Methods: This case-control study was conducted in 138 patients with AMD and 152 healthy persons frequency-match with the former by age and gender. FBLN5 1087G>A and 506T>C polymorphisms were genotyped through polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP). The χ2 test was used to check hardy-weinberg equilibrium (HWE) and calculate odds ratio (OR) with 95% confidence interval (CI) which evaluated the association between polymorphisms and AMD risk. Results: HWE test showed that the selection of control group conformed to requirement. As a result, mutant genotypes TC, CC of FBLN5 506T>C polymorphism both had the higher frequencies in cases compared with controls (P=0.006 and 0.029, respectively). Furthermore its mutant allele C also was associated with the increased risk of AMD (OR=1.725, 95% CI=1.210-2.459). Conclusions: FBLN5 506T>C polymorphism significantly increased the susceptibility to AMD in population of northern China, but 1087G>A might be not an independent risk factor for AMD development.