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NO ASSOCIATION OF COMPLEMENT FACTOR H GENE POLYMORPHISM AND AGE-RELATED MACULAR DEGENERATION IN THE JAPANESE POPULATION

UKA, JUNKO MD*; TAMURA, HIROKI MD*; KOBAYASHI, TAKAYUKI MD*; YAMANE, KEN MD*; KAWAKAMI, HIDESHI MD; MINAMOTO, ATSUSHI MD*‡; MISHIMA, HIROMU K. MD

doi: 10.1097/01.iae.0000244068.18520.3e
Original Articles
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Purpose: The aim of this study was to determine whether genetic polymorphism of complement factor H (CFH) is associated with age-related macular degeneration (AMD) in the Japanese population.

Methods: Genomic DNA was examined in a cohort of 67 Japanese patients with AMD and 107 controls. TT/TC/CC genotypes on exon 9 were screened for sequence alternation by polymerase chain reaction analysis and through sequencing.

Results: The mean ages ± SD of AMD patients and control subjects were 73 ± 8.5 years and 72 ± 8.7 years, respectively. There was no significant difference between CFH genotypes in the AMD group (TT, 76%; TC, 19%; CC, 5%) and the control group (TT, 80%; TC, 17%; CC, 3%). The frequencies of T and C alleles were 86% and 14%, respectively, in the AMD group and 89% and 11%, respectively, in the control group.

Conclusion: CFH gene polymorphism is not associated with AMD in the Japanese population. Moreover, the frequency of the C allele is low among the Japanese population.

The complement factor H gene (CFH) polymorphism is not associated with age-related macular degeneration (AMD) in the Japanese. The frequency of the C allele of CFH is low in the Japanese and this may in part account for the lower prevalence of AMD in the Japanese than in the white.

From *Department of Ophthalmology and Visual Science, Graduate School of Biomedical Sciences, and †Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, ‡Minamoto Eye Clinic, and §Hiroshima General Hospital of West Japan Railway Company, Hiroshima, Japan.

The authors have no proprietary interest in any aspect of this study.

Reprint requests: Atsushi Minamoto, MD, 17-12-101, Higashihon-ura, Minami-ku, Hiroshima 734-0025, Japan; e-mail: minamoto@beach.ocn.ne.jp

© The Ophthalmic Communications Society, Inc.