102 164

Cited 0 times in

Association between complement factor H gene polymorphisms and neovascular age-related macular degeneration in Koreans

Authors
 Na Rae Kim  ;  Ju Hee Kang  ;  Oh Woong Kwon  ;  Seok Joon Lee  ;  Jung Hyub Oh  ;  Hee Seung Chin 
Citation
 Investigative Ophthalmology & Visual Science, Vol.49(5) : 2071-2076, 2008 
Journal Title
 Investigative Ophthalmology & Visual Science 
ISSN
 0146-0404 
Issue Date
2008
Abstract
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.
Files in This Item:
T200801364.pdf Download
DOI
10.1167/iovs.07-1195
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Oh Woong(권오웅)
Export
RIS (EndNote)
XLS (Excel)
XML
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/107671
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse