Author(s): Lin, JM (Lin, Jane-Ming); Wan, L (Wan, Lei); Tsai, YY (Tsai, Yi-Yu); Lin, HJ (Lin, Hui-Ju); Tsai, Y (Tsai, Yushin); Lee, CC (Lee, Cheng-Chun); Tsai, CH (Tsai, Chang-Hai);
Tseng, SH (Tseng, Sung-Huei); Tsai, FJ (Tsai, Fuu-Jen)
Title: Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration
Source: AMERICAN JOURNAL OF OPHTHALMOLOGY, 145 (6): 1045-1051 JUN 2008 Language: English
Document Type: Article
KeyWords Plus: CHOROIDAL NEOVASCULAR MEMBRANES; FACTOR-H POLYMORPHISM; VEGF GENE; OCULAR NEOVASCULARIZATION; VISUAL
IMPAIRMENT; MACULOPATHY; PREVALENCE; EXPRESSION; PEGAPTANIB; Y402H 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 x 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.
Addresses: [Wan, Lei; Tsai, Chang-Hai; Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Genet, Taichung 404, Taiwan; [Lin, Jane-Ming; Tsai, Yi-Yu; Lin, Hui-Ju] China Med Univ Hosp, Dept Ophthalmol, Taichung 404, Taiwan; [Wan, Lei; Lee, Cheng-Chun; Tsai, Chang- Hai; Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Res, Taichung 404, Taiwan; [Tsai, Yushin; Tsai, Fuu-Jen] China Med Univ, Grad Inst Chinese Med Sci, Taichung, Taiwan; [Wan,
Lei; Tsai, Chang-Hai; Tsai, Fuu-Jen] Asia Univ, Dept Biotechnol & Bioinformat, Taichung, Taiwan; [Tseng, Sung-Huei] Natl Cheng Kung Univ Hosp, Dept Ophthalmol, Tainan 70428, Taiwan
Reprint Address: Tsai, FJ, China Med Univ Hosp, Dept Med Genet, 2 Yuh Rd, Taichung 404, Taiwan.
E-mail Address: d0704@mail.cmuh.org.tw
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Publisher: ELSEVIER SCIENCE INC
Publisher Address: 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA ISSN: 0002-9394
DOI: 10.1016/j.ajo.2008.01.027
29-char Source Abbrev.: AMER J OPHTHALMOL ISO Source Abbrev.: Am. J. Ophthalmol.
Source Item Page Count: 7 Subject Category: Ophthalmology ISI Document Delivery No.: 307PS
