272 566

Cited 68 times in

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

DC Field Value Language
dc.contributor.author권오웅-
dc.date.accessioned2015-05-19T17:11:23Z-
dc.date.available2015-05-19T17:11:23Z-
dc.date.issued2008-
dc.identifier.issn0146-0404-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/107671-
dc.description.abstractPURPOSE: 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.-
dc.description.statementOfResponsibilityopen-
dc.format.extent2071~2076-
dc.relation.isPartOfINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAged-
dc.subject.MESHAged, 80 and over-
dc.subject.MESHAsian Continental Ancestry Group/ethnology-
dc.subject.MESHCase-Control Studies-
dc.subject.MESHChoroidal Neovascularization/ethnology-
dc.subject.MESHChoroidal Neovascularization/genetics*-
dc.subject.MESHComplement Factor H/genetics-
dc.subject.MESHFemale-
dc.subject.MESHGenotype-
dc.subject.MESHHaplotypes-
dc.subject.MESHHumans-
dc.subject.MESHKorea/epidemiology-
dc.subject.MESHLinkage Disequilibrium-
dc.subject.MESHMacular Degeneration/ethnology-
dc.subject.MESHMacular Degeneration/genetics*-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHPolymerase Chain Reaction-
dc.subject.MESHPolymorphism, Single Nucleotide*-
dc.subject.MESHProspective Studies-
dc.titleAssociation between complement factor H gene polymorphisms and neovascular age-related macular degeneration in Koreans-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Ophthalmology (안과학)-
dc.contributor.googleauthorNa Rae Kim-
dc.contributor.googleauthorJu Hee Kang-
dc.contributor.googleauthorOh Woong Kwon-
dc.contributor.googleauthorSeok Joon Lee-
dc.contributor.googleauthorJung Hyub Oh-
dc.contributor.googleauthorHee Seung Chin-
dc.identifier.doi10.1167/iovs.07-1195-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00235-
dc.relation.journalcodeJ01187-
dc.identifier.eissn1552-5783-
dc.identifier.pmid18223247-
dc.subject.keywordAged-
dc.subject.keywordAged, 80 and over-
dc.subject.keywordAsian Continental Ancestry Group/ethnology-
dc.subject.keywordCase-Control Studies-
dc.subject.keywordChoroidal Neovascularization/ethnology-
dc.subject.keywordChoroidal Neovascularization/genetics*-
dc.subject.keywordComplement Factor H/genetics-
dc.subject.keywordFemale-
dc.subject.keywordGenotype-
dc.subject.keywordHaplotypes-
dc.subject.keywordHumans-
dc.subject.keywordKorea/epidemiology-
dc.subject.keywordLinkage Disequilibrium-
dc.subject.keywordMacular Degeneration/ethnology-
dc.subject.keywordMacular Degeneration/genetics*-
dc.subject.keywordMale-
dc.subject.keywordMiddle Aged-
dc.subject.keywordPolymerase Chain Reaction-
dc.subject.keywordPolymorphism, Single Nucleotide*-
dc.subject.keywordProspective Studies-
dc.contributor.alternativeNameKwon, Oh Woong-
dc.contributor.affiliatedAuthorKwon, Oh Woong-
dc.rights.accessRightsfree-
dc.citation.volume49-
dc.citation.number5-
dc.citation.startPage2071-
dc.citation.endPage2076-
dc.identifier.bibliographicCitationINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol.49(5) : 2071-2076, 2008-
dc.identifier.rimsid54827-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

qrcode

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