Association Of Cfh Gene Polymorphisms With Age-related Macular Degeneration Of Han And Hui Population In Ningxia

Purpose:To assess interaction between genotypic distribution of single nucleotide polymorphisms(SNPs) in CFH as well as age-related macular degeneration susceptibility in the population of Hui and Han in NingxiaMethod: A case-control association study of 447 AMD patients(340 of Han,107 of Hui)whom visited to Ningxia Eye Hospital between January 2013 to August 2014 and 906 controls(698of Han,208 of Hui)whom be willing to take cataract surgery were recruited. Genomic DNA was prepared from peripheral blood. select tag SNPs base on HAPMAP database and functional SNPs which come from literatures: rs1061170, rs 1065489, rs 10737680, rs 1329424, rs 1329428, rs 1410996, rs 3753396, rs 3766404, rs 380390, rs 505102, rs 7540032. All individuals were genotyped for11 single nucleotide polymorphisms(SNPs) by Sequenom mass spectrometry analysis platform in case and control. Genotypic distribution was tested for Hardy-Weinberg equilibrium. Data were analyzed using T-test, Chi-Square and using logistic regression control sex /age.Statistical analysis was performed for genotype, allele and haplotype frequencies along with their p values and corresponding odds ratios(OR), 95% confidence intervals(95% CI). Bonferroni corrections for multiple comparisons were performed.Result:After Bonferroni correction, the genotype and allele distributions of 7 SNPs: rs 1065489,rs 10737680,rs 1329428,rs 1410996,rs 3753396,rs 505102,rs 7540032 differed significantly between the controls and AMD patients(P<0.05). Among them,4 SNPs were significantly associated with AMD risk in the genotype and allele distributions. The OR values of AA and CA genotype of rs10737680 were(OR=1.192,95%CI:1.087-1.307)and(OR=1.112,95%CI:1.041-1.298); The OR values of CC and CT genotype of rs1410996 were(OR=1.271,95%CI:1.149-1.407)and(OR=1.104,95%CI:1.022-1.192); The OR values of AA and GA genotype of rs505102 were(OR=1.265,95%CI:1.170-1.368)and(OR=1.145,95%CI:1.061-1.236); The OR values of CC and CT genotype of rs7540032 were(OR=1.329,95%CI:1.196-1.478)å'Œ(OR=1.146,95%CI:1.056-1.244). There were no difference between the controls and AMD patients of allele and genotype distributions of Hui population.Conlution: The polymorphism of rs10737680, rs1410996,rs505102,rs7540032 of CFH gene are associated with AMD risk in Ningxia Han population. The AA and CA,CC and CT,AA and GA,CC and CT haplotypes of rs10737680,rs1410996,rs505102 and rs7540032 increased 1.192 and 1.112 times, 1.271 and 1.104 times, 1.265 and 1.145 times, 1.329 and 1.146 times risk compared AMD patients to controls respectively.The selected 11 SNPs of CFH gene are not associated with AMD in Ningxia Hui population.