TY - JOUR
T1 - The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration
T2 - A HuGE review and meta-analysis
AU - Thakkinstian, Ammarin
AU - McEvoy, Mark
AU - Chakravarthy, Usha
AU - Chakrabarti, Subhabrata
AU - McKay, Gareth J.
AU - Ryu, Euijung
AU - Silvestri, Giuliana
AU - Kaur, Inderjeet
AU - Francis, Peter
AU - Iwata, Takeshi
AU - Akahori, Masakazu
AU - Arning, Astrid
AU - Edwards, Albert O.
AU - Seddon, Johanna M.
AU - Attia, John
PY - 2012/9/1
Y1 - 2012/9/1
N2 - 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.
AB - 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.
KW - complement component factor 2
KW - complement factor B
KW - genetic association studies
KW - genetics
KW - genome, human
KW - macular degeneration
KW - meta-analysis
KW - molecular epidemiology
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U2 - 10.1093/aje/kws031
DO - 10.1093/aje/kws031
M3 - Review article
C2 - 22869612
AN - SCOPUS:84865776603
VL - 176
SP - 361
EP - 372
JO - American Journal of Epidemiology
JF - American Journal of Epidemiology
SN - 0002-9262
IS - 5
ER -