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The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis.

Abstract

The authors performed a systematic review of the association of complement component 2(C2)/complement factor B (CFB) gene polymorphisms with age-related macular degeneration (AMD). In total, data from 19 studies published between 2006 and 2011 were pooled for 4 polymorphisms: rs9332739 and rs547154 in the C2 gene and rs4151667 and rs641153 in the CFB gene. Data extraction and assessments for risk of bias were independently performed by 2 reviewers. Allele frequencies and allele and genotypic effects were pooled. Heterogeneity and publication bias were explored. Pooled minor allele frequencies for all 4 SNPs were between 4.7% and 9.6% for all polymorphisms, except for an Indian population in which the C allele at rs9332739 was the major allele. For the C2 polymorphisms, the minor C allele at rs9332739 and the minor T allele at rs547154 carried estimated relative risks (odds ratios) of 0.55 (95% confidence interval (CI): 0.46, 0.65) and 0.47 (95% CI: 0.39, 0.57), respectively. For the CFB polymorphisms, the minor A alleles at rs4151667 and rs614153 carried estimated risks of 0.54 (95% CI: 0.45, 0.64) and 0.41 (95% CI: 0.34, 0.51), respectively. These allele effects contributed to an absolute lowering of the risk of all AMD in Caucasian populations by 2.0%-6.0%. This meta-analysis provides a robust estimate of the protective association of C2/CFB with AMD.

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  • Publisher Full Text

    • Authors

    Thakkinstian A, McEvoy M, Chakravarthy U, Chakrabarti S, McKay GJ, Ryu E, Silvestri G, Kaur I, Francis P, Iwata T, Akahori M, Arning A, Edwards AO, Seddon JM, Attia J

    Institution

    Section for Epidemiology and Biostatistics, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. ammarin.tha@mahidol.ac.th

    Source

    American journal of epidemiology 176:5 2012 Sep 1 pg 361-72

    MeSH

    Asian Continental Ancestry Group
    Complement C2
    Complement Factor B
    European Continental Ancestry Group
    Gene Frequency
    Genetic Markers
    Genome-Wide Association Study
    Humans
    Macular Degeneration
    Models, Statistical
    Odds Ratio
    Polymorphism, Single Nucleotide

    Pub Type(s)

    Journal Article
    Meta-Analysis
    Review

    Language

    eng

    PubMed ID

    22869612