Association Of The Y402H Polymorphism In Complement Factor H Gene And AMD In Chinese Han Patients

[Objective] To identify the association between the Y402H polymorphism in CFH and AMD in Chinese Han patients.[Methods] One hundred and eighty-six Chinese Han patients with AMD and 150 age-, sex-matched controls were recruited in the study. The smoking history, hypertension and BMI of all subjects were recorded in detail. Five ml venous blood was withdraw from each subject and collected in an EDTA-containing tube. Genomic DNA was extracted,and genotyping of SNP Y402H was performed by PCR-(polymerase chain reaction) RFLP (restriction fragment length polymorphism). The data were examined by Chi-square test.[Results] The frequency of subject smoking and subject with increased BMI in AMD group was not different from that in control group(p=0.272 and 0.480 respectively) . The prevalence of Hypertension in AMD group was significantly higher than that in control group. The genotype distribution of SNP Y402H reached Hardy-Weinberg equilibrium both in control group and AMD group (p=0.33 and 0.35 respectively). There were no difference of the distribution of alleles and genotypes between AMD group and control group (p=0.092 and 0.091 respectively). There were no difference of the distribution of alleles and genotypes between dry AMD group and control group (p=0.722 and 0.710 respectively). The frequency of C allele and genotype TC were significantly higher in wet AMD group than that in control group (p=0.010 and 0.012, respectively).[Conclusion] Hypertension is one of the risk factors of AMD and smoking and increased BMI are not associated with AMD in China. The polymorphism Y402H is significantly associated with wet AMD in Chinese patients.