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

Ammarin Thakkinstian, Mark McEvoy, Usha Chakravarthy, Subhabrata Chakrabarti, Gareth J. McKay, Euijung Ryu, Giuliana Silvestri, Inderjeet Kaur, Peter Francis, Takeshi Iwata, Masakazu Akahori, Astrid Arning, Albert O. Edwards, Johanna M. Seddon, John Attia

Research output: Contribution to journalReview articlepeer-review

43 Scopus citations

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 2.06.0. This meta-analysis provides a robust estimate of the protective association of C2/CFB with AMD.

Original languageEnglish (US)
Pages (from-to)361-372
Number of pages12
JournalAmerican journal of epidemiology
Volume176
Issue number5
DOIs
StatePublished - Sep 1 2012

Keywords

  • complement component factor 2
  • complement factor B
  • genetic association studies
  • genetics
  • genome, human
  • macular degeneration
  • meta-analysis
  • molecular epidemiology

ASJC Scopus subject areas

  • Epidemiology

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