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Coding and Noncoding Variants in the CFH Gene and Cigarette Smoking Influence the Risk of Age-Related Macular Degeneration in a Japanese Population

¹From the Department of Ophthalmology, the ³Division of Endocrinology and Diabetes, Department of Medicine, and the ⁴Division of Radio Isotope Laboratory, Biomedical Research Center, Saitama Medical University, Saitama, Japan; and the ²Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

PURPOSE. Ethnic variation has been reported in age-related macular degeneration (AMD)–associated Y402H polymorphism in complement factor H (CFH). This variation is evident in the Japanese population. Recently a strong association between a novel single-nucleotide polymorphism (SNP; rs1410996) in the CFH gene and AMD has been identified in Caucasian patients. The present study was undertaken to investigate whether four coding and noncoding variants of the CFH gene, including rs1410996, are associated with AMD in native, unrelated Japanese patients.

METHODS. A total of 188 patients with AMD and 139 control subjects without AMD were recruited for the study. Four SNPs (rs800292, rs1061170, rs1410996, and rs2274700) in the CFH gene were assessed by genotyping assay. The information regarding systemic conditions and lifestyle including smoking were documented in each subject by standardized questionnaire.

RESULTS. The intronic SNP (rs1410996) and the synonymous SNP (rs2274700) were associated with a significant risk of AMD (P = 2.37 x 10^–5 and 3.52 x 10^–5, respectively). A significant association was also noted between a coding variant (rs800292, I62V) and AMD (P = 8.63 x 10^–6). In contrast, the Y402H variant showed no significant association with AMD (P = 0.101). Two common haplotypes also demonstrated significant association with AMD (P = 1.08 x 10^–3 and 2.00 x 10^–5). Among the environmental factors, smoking alone had a significant association with AMD (P = 1.17 x 10^–4).

CONCLUSIONS. Although the Y402H variant was not significantly associated with AMD, other coding and noncoding variants in the CFH gene including rs1410996 and smoking moderately influenced the risk of AMD in a Japanese population.

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