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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

Insights

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.

Read full analysis

Abstract

Background:

Several previous studies have assessed the contribution of polymorphisms in genes encoding the complement factors C2/C3/CFB/CFH with the risk of age-related macular degeneration (AMD), however the results have been inconsistent. We conducted a meta-analysis to systematically review the potential association between complement factor polymorphisms and AMD.

Methods:

Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated to evaluate the association between these polymorphisms and AMD using Stata 12.0 software. Q and I² statistics were used to evaluate between-study heterogeneity. Publication bias analyses were conducted using Begg's test. We also conducted an ethnic subgroup analysis.

Results:

A total of 53 studies that included data for 53,774 patients and 56,973 healthy controls were evaluated. The pooled ORs for rs551397, rs2274700, rs4151667, rs641153, rs1047286, rs9332739, and rs547154 in the heterozygote model were 0.53 (95% CI: 0.45-0.61), 0.53 (95% CI: 0.40-0.70), 0.54 (95% CI: 0.46-0.63), 0.48 (95% CI: 0.4-0.57), 1.42 (95% CI: 1.22-1.66), 0.5 (95% CI: 0.45-0.56), and 0.52 (95% CI: 0.43-0.62), respectively.

Conclusion:

Our findings from this analysis confirmed the protective role of C2/CFB/CFH polymorphisms in the development of AMD, but showed that the single nucleotide polymorphism in C3 was a high-risk factor for AMD. The racial analysis results suggested that the effect of variant alleles was stronger in Caucasians than Asians.

Keywords:

age-related macular degeneration complement system meta-analysis single nucleotide polymorphism

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