Complement factor H polymorphisms in Japanese population withage-related macular degeneration

[摘要] Purpose: To study the frequency of five haplotypes previouslyreported in the complement factor H (CFH) gene for Japanese patientswith age-related macular degeneration (AMD).Methods: Genomic DNA was isolated from peripheral blood samplestaken from 96 Japanese AMD patients and 89 age-matched controls. Allpatients were diagnosed as having exudative (wet-type) AMD. Theamplified polymerase chain reaction (PCR) products of CFH exons 2,9, and 13, and intron 6 were analyzed by temperature gradient capillaryelectrophoresis (TGCE) and by direct sequencing. The haplotypes wereidentified, and their frequencies were calculated and compared withreported results.Results: Five haplotypes were identified in the Japanese populationincluding four already reported in the American population. Thefrequencies of these haplotypes were significantly different betweenJapanese and American in both control and case groups. The haplotypecontaining Y402H, which was previously reported to be associated withAMD, was only 4% in the control and case population, with a p value of0.802. However, two other haplotypes were found as risk factors, whichgave an increased likelihood of AMD of 1.9 and 2.5 fold (95% CI1.12-3.69 and 1.42-6.38). One protective haplotype that decreased thelikelihood of AMD by 1.6 fold (95% CI 0.26-0.67) was identified.Conclusions: The frequencies for five haplotypes previouslyidentified were analyzed in a Japanese population with AMD. Fourpreviously found haplotypes were identified and one additional haplotypewas found. The frequencies of each haplotype were significantlydifferent from that in found Americans affected with AMD. Two of thehaplotypes were identified as risk factors and one was consideredprotective.

[学科分类] 生物化学/生物物理