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Originally published In Press as doi:10.1167/iovs.07-1195 on January 25, 2008
 (Investigative Ophthalmology and Visual Science. 2008;49:2071-2076.)
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.07-1195
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Association between Complement Factor H Gene Polymorphisms and Neovascular Age-Related Macular Degeneration in Koreans

Na Rae Kim,1 Ju Hee Kang,2,3 Oh Woong Kwon,4 Seok Joon Lee,5 Jung Hyub Oh,1,3 and Hee Seung Chin1

1From the Department of Ophthalmology, and the 3Center for Advanced Medical Education by the BK-21 Project, Inha University School of Medicine, Incheon, Korea; the 2Department of Pharmacology, Medical Toxicology Research Center, Inha Research Institute for Medical Sciences, Inha University, Incheon, Korea; the 4Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea; and the 5Department of Ophthalmology, Wonju Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Kangwon-do, Korea.

PURPOSE. This study was undertaken to investigate the association between the complement factor H (CFH) gene and exudative age-related macular degeneration (AMD) in Korean patients.

METHODS. Genomic DNA was isolated from the peripheral leukocytes of patients with exudative AMD (n = 114) and control subjects (n = 187). The sole criterion for exudative AMD was the presence of choroidal neovascularization. Four single-nucleotide polymorphisms (SNPs: –275C>T, I62V, Y402H, and IVS15) located in promoter, exon 2, exon 9, and intron 15 of the CFH gene were genotyped by PCR-based direct sequencing.

RESULTS. The frequency of the C allele of Y402H (AMD, 10.5%; control, 6.5%) was found to be lower in Koreans than in Caucasians. In the present study, the difference between the frequencies of Y402H in cases and control subjects did not reach statistical significance (P = 0.071). However, the frequencies of the major alleles of three SNPs (–275C>T, I62V, and IVS15) were significantly different in patients and control subjects, and these SNPs were found to be separately associated with an elevated risk of exudative AMD. Seven haplotypes were identified in Koreans. Haplotype analysis showed that two haplotypes (TGTG, CGTG) conferred significantly higher risks of exudative AMD (P = 0.013, 0.035), and one haplotype (CATA) was significantly protective (P < 0.001).

CONCLUSIONS. In Korean subjects, CFH polymorphism appears to be a considerable hereditary contributor to exudative AMD. Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans.






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