Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort

To evaluate the association between complement factor H (CFH) gene polymorphism and the risk of exudative age-related macular degeneration (AMD) in a case–control study in a Chinese cohort. One hundred and thirty-six exudative AMD patients and 140 age- and sex-matched control subjects were recruited. We genotyped 3 common single nucleotide polymorphisms (SNPs), namely, −257C > T (rs3753394), Y402H (rs1061170) and IVS15 (rs1329428), genetic analyses were performed on all available genotype data. All the possible haplotypes of these 3 SNPs were detected. Polymerase chain reaction (PCR) and allele-specific restriction endonuclease digestion were performed, some PCR products of these 3 SNPs were sequenced. The risk alleles (T, C or G) of the 3 SNPs conferred 1.72-fold, 3.14-fold, and 1.79-fold of increased likelihood of the disease, respectively (P < 0.05). The heterozygous genotype in rs1061170 (TC) revealed significant association, meanwhile rs3753394 and rs1329428 had a slight association with the disease, respectively. Significant differences were shown in the risk alleles in the 3 SNPs among different Chinese cohort. Low linkage disequilibrium was found among the 3 SNPs. The haplotypes TCG and CTG revealed as risk factors, whereas the protective haplotype CTA was over-represented in controls. We found significant association between risk alleles (T, C or G) of the 3 SNPs and the disease. The genetic divergence across multiple populations within Chinese existed. Risk haplotypes and protective haplotype were found in this study.

Research highlights▶ Risk alleles (T, C or G) of CFH variants conferred increased likelihood of exudative AMD, respectively. ▶ rs3753394 and rs1329428 had a slight association with the disease, respectively. ▶ The genetic divergence of CFH across multiple populations within Chinese existed. ▶ Risk haplotypes and protective haplotype were found in this study.