Objective: This study was aimed to confirm whether I62V and Y402H polymorphisms of complement factor H (CFH) were risk factors for age-related macular degeneration (AMD).
Method: 109 AMD patients and 165 AMD-free controls were enrolled in the study. The I62V and Y402H polymorphisms were analyzed by polymerase chain reaction-restriction fragment length of polymorphism (PCR-RFLP). Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated by the X2 test to assess the relationship of I62V and Y402H polymorphisms with AMD risk. Analysis of haplotype and stratification by age and smoking status was conducted as well.
Results: AA genotype and A allele of I62V polymorphism was significantly associated with increased risk for AMD (OR=3.75, 95% CI=1.70-8.30; OR=1.64, 95% CI=1.14-2.36). For Y402H polymorphism, CT genotype showed strong effects on the occurrence of AMD (OR=2.10, 95% CI=1.04-4.27). Moreover, C allele was also a risk factor for AMD (OR=1.95, 95% CI=1.02-3.72). The haplotypes analysis suggested that the risk for AT haplotype carriers was high, compared with GT haplotype (OR=3.91, 95% CI=2.58-5.94). In addition, we found that smoking status could affect the genotype distribution of Y402H polymorphism (P<0.05).
Conclusions: Our results revealed that CFH polymorphisms I62V and Y402H might be associated with the susceptibility to AMD in Chinese population.
Keywords: AMD; CFH; polymorphism; susceptibility.