NDLI: Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Song, Yanping Wang, Zhi Sheng, Shuangyan Tao, Qiushan Chen, Wen Li, Pengcheng Zhou, Jingjing Wu, Lin
Spatial Coverage	China
Description	Country affiliation: China Author Affiliation: Wu L ( Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.)
Abstract	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.
ISSN	01460404
e-ISSN	15525783
DOI	10.1167/iovs.12-10453
Journal	Investigative Opthalmology & Visual Science
Issue Number	1
Volume Number	54
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2013-01-07
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Asian Continental Ancestry Group Genetics Statistics & Numerical Data Complement System Proteins Macular Degeneration Ethnology Polymorphism, Single Nucleotide Case-control Studies Epidemiology Complement C2 Metabolism Complement C3 Complement Factor B Complement Factor H Genetic Predisposition To Disease Haplotypes Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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