Vascular Endothelial Growth Factor Gene Polymorphisms in Age-related Macular Degeneration

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Title:	Vascular Endothelial Growth Factor Gene Polymorphisms in Age-related Macular Degeneration
Authors:	林正明(Lin Jane-Ming);萬磊(Lei Wan);蔡宜佑(Yi-Yu Tsai);林慧茹(Hui-Ju Lin);蔡育勳(Yuhsin Tsai);李正淳(Cheng-Chun Lee);蔡長海(Chang-Hai Tsai);(SUNG-HUEI TSENG);蔡輔仁(Fuu-Jen Tsai)*
Contributors:	中醫學院中醫學系學士班中醫內科學科;中國附醫眼科部
Date:	2008-04
Issue Date:	2009-08-20 17:57:57 (UTC+8)
Abstract:	Purpose To investigate vascular endothelial growth factor (VEGF) gene polymorphisms in unrelated Taiwan Chinese patients with late age-related macular degeneration (AMD) and controls. Design Retrospective case-control study. Methods We enrolled 190 late AMD patients and 180 age-matched and gender-matched controls. Late AMD was classified as either dry (atrophic; grade 4) or wet (neovascular; grade 5) according to the International Age-Related Maculopathy Epidemiologic Study. Genomic deoxyribonucleic acid was prepared from peripheral blood obtained from all subjects. Polymerase chain reactions were used to analyze five candidate single-nucleotide polymorphisms (SNPs) in VEGF gene: +405C/G (rs2010963), −460 T/C (rs833061), +674 C/T (rs1413711), +936C/T (rs3025039), and −2578C/A (rs699947). Results Of the 190 late AMD patients, dry AMD was diagnosed in 104 and wet AMD in 86. Among the five candidate SNPs studied, only the +936 C/T was significantly associated with wet AMD (T allele: 30% in wet AMD vs 14% in controls; P = 1.45 × 10−5; odds ratio, 2.61; 95% confidence interval, 1.68 to 4.07). No single haplotype was significantly associated with either late AMD or controls. Based on genotypes at both VEGF +936 C/T and the complement factor H (CFH) Y402H (rs1061170), the association of VEGF +936 C/T to AMD was significant when analyzed conditional on the presence of the CFH C risk allele and vice versa (P < .0001). The VEGF +936 C/T was in strong linkage disequilibrium with CFH Y402H (D′ = 0.99). Conclusions Both VEGF +936 C/T and CFH Y402H polymorphisms are dependently associated with wet AMD in the Taiwan Chinese population.
Relation:	AMERICAN JOURNAL OF OPHTHALMOLOGY145(6):1045~1051?
Appears in Collections:	[School of Chinese Medicine] Journal articles

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