Association Of Single Nucleotide Polymorphisms In Complement Factor â… Gene With Age-related Macular Degeneration

[Objective] To investigate the association of three single nucleotidepolymorphisms (SNPs) in the upstream of the complement factor I (CFI) gene withage-related macular degeneration (AMD) in a Chinese population.[Methods] Case-control study. Patients with early or late stages of AMD andhealthy control subjects were recruited. Genomic DNA was extracted from theperipheral venous blood. Genotyping for SNPs rs10033900: T>C, rs13117504: C>Gand rs2285714: C>T in the upstream of the CFI gene was determined by using amethod of polymerase chain reaction (PCR) followed by restriction enzyme digestionand direct sequencing. Statistical analysis was performed using the R statisticalanalysis package.[Results] A total of three hundred and seventy nine participants enrolled in thestudy, including119patients with exudative AMD,120patients with early AMD and140control individuals without AMD. Frequency of the minor allele C of rs10033900in exudative AMD, early AMD and control groups were17.4%,22.5%and29.3%,respectively. Significant association of rs10033900was detected with exudativeAMD (χ~2=9.82，P=0.002, OR=0.57,95%CI：0.36~0.88), but not with early AMD (χ~2=3.08，P=0.079). Frequency of the minor allele G of rs13117504in exudative AMD,early AMD and control groups were38.6%,54.2%and51.8%, respectively.Significant association of rs13117504was detected with exudative AMD (χ~2=9.03，P=0.003，OR=0.56，95%CI：0.39~0.82), but not with early AMD (χ~2=0.29，P=0.59). No association was detected between rs2285714and exudative AMD (χ~2=0.72，P=0.31) or between rs2285714and early AMD (χ~2=2.30，P=0.13).[Conclusions] The minor allele of rs10033900and rs13117504in the CFIgene may have a protective role against the risk of exudative AMD.