1. The Association Between Complement Component 2/Complement Factor B Polymorphisms and Age-related Macular Degeneration: A HuGE Review and Meta-Analysis
- Author
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Peter J. Francis, Subhabrata Chakrabarti, Mark McEvoy, Usha Chakravarthy, Masakazu Akahori, Astrid Arning, Giuliana Silvestri, Inderjeet Kaur, Ammarin Thakkinstian, Takeshi Iwata, Gareth J. McKay, Euijung Ryu, John Attia, Albert O. Edwards, and Johanna M. Seddon
- Subjects
Oncology ,medicine.medical_specialty ,Epidemiology ,Genome-wide association study ,Single-nucleotide polymorphism ,Bioinformatics ,Polymorphism, Single Nucleotide ,Complement factor B ,Macular Degeneration ,Age related ,Internal medicine ,medicine ,Humans ,Allele ,Association (psychology) ,Allele frequency ,Complement component 2 ,business.industry ,Odds ratio ,Macular degeneration ,Complement C2 ,medicine.disease ,Minor allele frequency ,Meta-analysis ,HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEW ,business ,Complement Factor B - 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.
- Published
- 2012
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