The correlation between single nucleotide polymorphism of complement factor H gene and exudative age-related macular degeneration / 中华眼底病杂志

ABSTRACT

ObjectiveTo investigate the correlation between single nucleotide polymorphism (SNP)of complement factor H (CFH) gene and exudative age-related macular degeneration (AMD) susceptibility.MethodsThis is a retrospective case control study. 136 exudative AMD patients (AMD group) and 140age and sex-matched normal subjects (control group) were enrolled in this study. The peripheral blood was collected,polymorphism genotypes and frequency of CFH Y402H(rs1061170),CFH-257C ＞ T (rs3753394) and CFH IVS15 (rs1329428)were measured by polymerase chain reaction (PCR) and allelespecific restriction endonuclease digestion. The SHEsis software was performed on haplotype construction to analyze the frequency.ResultsThere are TT, TC, CC genotypes and T, C allele in CFH Y402H (rs1061170); CC, CT, TT genotypes and C, T allele in CFH-257C＞T (rs3753394); AA, AG, GG genotypes and A, G allele in CFH IVS15 (rs1329428). The differences of genotypes and allele frequency between 2 groups were statistically significant (P＜0. 05). The TC genotype in CFH Y402H, TT genotype in CFH-257C＞T (rs3753394) and GG genotype in CFH IVS15 (rs1329428) were associated with exudative AMD susceptibility (OR=4. 11,2. 55,3.11;P＜0.05). The T, C and G allele were the risk alleles (OR=3.14,1.72,1.79;P＜0. 05). The differences of frequency between TCG, CTG and CTA haplotype were statistically significant(X2 =10.53,6.60, 32.82;P＜0.05). ConclusionThere is correlation between SNPs of CFH gene and exudative AMD susceptibility.