|Association between Polymorphisms of Complement Pathway Genes and Age-Related Macular Degeneration in a Chinese Population|
|Wu, Lin1; Tao, Qiushan2; Chen, Wen1; Wang, Zhi1; Song, Yanping3; Sheng, Shuangyan1; Li, Pengcheng1; Zhou, Jingjing1|
|刊名||INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE|
|WOS标题词||Science & Technology|
|关键词[WOS]||FACTOR-H POLYMORPHISM ; COMPONENT 2 C2 ; FACTOR-B BF ; TRAIT ASSOCIATIONS ; SNP HAPLOTYPES ; C3 ; RISK ; PREVALENCE ; CFB ; ATTRIBUTES|
PURPOSE. We assessed the association between complement pathway genes and age-related macular degeneration (AMD) in a Chinese population.
METHODS. In a case-control study, 165 AMD patients and 216 unrelated controls were recruited from two hospitals in central China. We selected and genotyped six single nucleotide polymorphisms (SNPs) of four complement pathway genes, including rs800292 and rs1410996 of complement H (CFH), rs9332739 of complement 2 (C2), rs4151667 of complement factor B (CFB), and rs2241394 and rs2230199 of complement 3 (C3). The associations between SNPs and AMD, adjusted by age and sex, were assessed by using logistic regression models and haplotype association analysis.
RESULTS. In our study, two SNPs of CFH and their haplotypes were associated significantly with AMD, and the adjusted odd ratios (ORs) were 2.45 (95% confidence interval [CI] 1.25-4.79) for rs800292 (genotype GG versus AA), 2.49 (95% CI 1.24-5.00) for rs1410996 (genotype TT versus CC), and 4.45 (95% CI 2.32-8.55) for haplotype block of rs800292-rs1410996 (haplotype G-C versus A-C), respectively. The haplotype of C2/CFB also was associated significantly with AMD, and the adjusted OR was 8.86 (95% CI 1.88-41.69) for the haplotype block of rs9332739-rs4151667 (haplotype G-A versus G-T), though no relationship was found in genotype association analysis of the two SNPs of C2/CFB. With the sample size of our study, no relationship was found for AMD and the two SNPs of C3.
CONCLUSIONS. Gene variants in CFH and C2/CFB contribute to AMD in the Chinese population. (Invest Ophthalmol Vis Sci. 2013;54:170-174) DOI: 10.1167/iovs.12-10453
|项目编号||2010CDB07801 ; D43 TW06176|
|资助机构||Natural Science Foundation of Hubei Province ; International Collaborative Genetic Research Training Grant NIH/FIC|
|作者单位||1.Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Ophthalmol, Union Hosp, Wuhan 430022, Peoples R China|
2.Peking Univ, Hlth Sci Ctr, Sch Publ Hlth, Dept Epidemiol & Biostat, Beijing 100871, Peoples R China
3.Wuhan Gen Hosp Guangzhou Mil Reg, Dept Ophthalmol, Wuhan, Peoples R China
|Wu, Lin,Tao, Qiushan,Chen, Wen,et al. Association between Polymorphisms of Complement Pathway Genes and Age-Related Macular Degeneration in a Chinese Population[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,2013,54(1):170-174.|
|APA||Wu, Lin.,Tao, Qiushan.,Chen, Wen.,Wang, Zhi.,Song, Yanping.,...&Zhou, Jingjing.(2013).Association between Polymorphisms of Complement Pathway Genes and Age-Related Macular Degeneration in a Chinese Population.INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,54(1),170-174.|
|MLA||Wu, Lin,et al."Association between Polymorphisms of Complement Pathway Genes and Age-Related Macular Degeneration in a Chinese Population".INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 54.1(2013):170-174.|