Author(s): Tsai, YY (Tsai, Yi-Yu); Lin, JM (Lin, Jane-Ming); Wan, L (Wan, Lei); Lin, HJ (Lin, Hui-Ju); Tsai, YS (Tsai, Yushin); Lee, CC (Lee, Cheng-Chun); Tsai, CH (Tsai, Chang-Hai);
Tsai, FJ (Tsai, Fuu-Jen); Tseng, SH (Tseng, Sung-Huei)
Title: Interleukin gene polymorphisms in age-related macular degeneration
Source: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 49 (2): 693-698 FEB 2008
Language: English Document Type: Article
KeyWords Plus: COMPLEMENT FACTOR-H; C-REACTIVE PROTEIN; SYNCYTIAL VIRUS BRONCHIOLITIS; NECROSIS-FACTOR-ALPHA; JAPANESE POPULATION; GASTRIC- CARCINOMA; VISUAL IMPAIRMENT; UNITED-STATES; ASSOCIATION; MACULOPATHY Abstract: PURPOSE. To investigate polymorphisms in a candidate gene of interleukin (IL) in unrelated Taiwan Chinese patients with late age-related macular degeneration (AMD) and control subjects without AMD.
METHODS. In this retrospective, case-control study, 312 unrelated Taiwan Chinese patients with late AMD and 180 age- and sex-matched control subjects were enrolled. Late AMD was classified as either atrophic (dry) or neovascular (wet) according to the International ARM Epidemiologic Study. Genomic DNA was prepared from peripheral blood obtained from all patients with AMD and control subjects. Polymerase chain reactions were used to analyze 14 single-nucleotide polymorphisms (SNPs) in candidate genes of 5 ILs: IL-1 beta(2q14): -511 T/C; IL-6 (7p21): -572 C/G and -596 G/A; IL-8 (4q13-q21): -251 A/T, +781 C/T, +1633 T/C, and +2767 A/T; IL-10 (1q31-q32): -592 A/C, -819 C/T, and -1082 G/A; and IL-18 (11q22.2- q22.3): +105 A/C, -137 C/G, -607 A/C, and -656 T/G.
RESULTS. In the 312 patients with late AMD, dry AMD was diagnosed in 136 and wet AMD in 176. Among the 14 SNPs in the 5 IL genes studied, only the IL-8 +781 C/T SNP was
significantly associated with wet AMD (T allele: 46% in wet AMD versus 28% in the control subjects, P = 1.03 x 10(-6), OR = 2.16, 95% CI = 1.58-2.94). The association analysis based on genotypes at both IL-8 +781 C/T and the CFH Y402H demonstrated that the IL-8 +781 C/T to AMD was not significant when analyzed conditional on the presence of the CFH Y402H C risk allele and vice versa. The IL-8 +781 C/T was in low linkage disequilibrium with CFH Y402H (D' = 0.02).
CONCLUSIONS. The data suggest that Taiwan Chinese carriers of the IL-8 +781 T allele, independent of the CFH Y402H polymorphism, are at increased risk of developing wet AMD.
Addresses: [Wan, Lei; Tsai, Chang-Hai; Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Genet, Taichung 404, Taiwan; [Tseng, Sung-Huei] Natl Cheng Kung Univ Hosp, Dept Ophthalmol, Tainan 70428, 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; [Wan, Lei; Lee, Cheng-Chun; Tsai, Chang- Hai; Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Res, Taichung 404, Taiwan; [Tsai, Yi-Yu;
Lin, Jane-Ming; Lin, Hui-Ju] China Med Univ Hosp, Dept Ophthalmol, Taichung 404, Taiwan;
[Wan, Lei; Tsai, Chang-Hai; Tsai, Fuu-Jen] China Med Univ Hosp, Grad Inst Chinese Med Sci, Taichung 404, Taiwan
Reprint Address: Tsai, FJ, China Med Univ Hosp, Dept Med Genet, 2 Yuh Der Rd, Taichung 404, Taiwan.
E-mail Address: [email protected]
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Publisher: ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Publisher Address: 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA ISSN: 0146-0404
DOI: 10.1167/iovs.07-0125
29-char Source Abbrev.: INVEST OPHTHALMOL VISUAL SCI ISO Source Abbrev.: Invest. Ophthalmol. Vis. Sci.
Source Item Page Count: 6 Subject Category: Ophthalmology ISI Document Delivery No.: 256RK
