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Association Between Complement Factor C2/C3/CFB/CFH Polymorphisms and Age-Related Macular Degeneration: A
Feiteng Lu1, Shuang Liu1, Qingyun Hao1
11 Department of Biochemistry, College of Medicine, Nanchang University , Nanchang, P.R. China .
Genetic Testing and Molecular Biomarkers
|September 5, 2018
Summary
Polymorphisms in complement factors C2, CFB, and CFH protect against age-related macular degeneration (AMD). However, a specific C3 gene variant (rs1047286) increases AMD risk, with stronger effects observed in Caucasians.
Area of Science:
- Genetics
- Ophthalmology
- Immunology
Background:
- Inconsistent findings exist regarding the association between complement factor gene polymorphisms and age-related macular degeneration (AMD) risk.
- Previous studies have explored the roles of C2, C3, CFB, and CFH gene polymorphisms in AMD development.
Purpose of the Study:
- To systematically review and meta-analyze the association between specific complement factor polymorphisms (C2, C3, CFB, CFH) and AMD risk.
- To clarify the conflicting results from previous investigations on complement factor polymorphisms and AMD.
Main Methods:
- A comprehensive literature search was conducted across major databases (PubMed, EMBASE, Web of Science, Cochrane Library) for studies published before January 1, 2018.
- Meta-analysis was performed using Stata 12.0 to calculate pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) for specific polymorphisms (rs547154, rs9332739 in C2; rs1047286 in C3; rs4151667, rs641153 in CFB; rs551397, rs2274700 in CFH).
- Heterogeneity, publication bias, and ethnic subgroup differences were assessed using Q and I² statistics and Begg's test.
Main Results:
- The meta-analysis included 53 studies with data from 53,774 AMD patients and 56,973 healthy controls.
- Polymorphisms in C2 (rs9332739, rs547154), CFB (rs4151667, rs641153), and CFH (rs551397, rs2274700) were associated with a reduced risk of AMD (pooled ORs ranging from 0.48 to 0.54).
- The C3 polymorphism (rs1047286) was significantly associated with an increased risk of AMD (OR: 1.42, 95% CI: 1.22-1.66).
Conclusions:
- Complement factor polymorphisms in C2, CFB, and CFH demonstrate a protective effect against AMD development.
- The single nucleotide polymorphism in the C3 gene (rs1047286) acts as a significant risk factor for AMD.
- Ethnic subgroup analysis indicated that the protective effects of variant alleles were more pronounced in Caucasians compared to Asians.
Keywords:
age-related macular degenerationcomplement systemmeta-analysissingle nucleotide polymorphismMore Related Videos
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