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Background  Age-related maculopathy (ARM) is a common cause of visual impairment in the elderly populations of industrialized countries and significantly affects the quality of life of those suffering from the disease. Variants within two genes, the complement factor H ( CFH ) and the poorly characterized  LOC387715  ( ARMS2 ), are widely recognized as ARM risk factors.  CFH  is important in regulation of the alternative complement pathway suggesting this pathway is involved in ARM pathogenesis. Two other complement pathway genes, the closely linked complement component receptor ( C2 ) and complement factor B ( CFB ), were recently shown to harbor variants associated with ARM.    Methods/Principal Findings  We investigated two SNPs in  C2  and two in  CFB  in independent case-control and family cohorts of white subjects and found  rs547154 , an intronic SNP in  C2 , to be significantly associated with ARM in both our case-control (P-value 0.00007) and family data (P-value 0.00001). Logistic regression analysis suggested that accounting for the effect at this locus significantly (P-value 0.002) improves the fit of a genetic risk model of  CFH  and  LOC387715  effects only. Modeling with the generalized multifactor dimensionality reduction method showed that adding  C2  to the two-factor model of  CFH  and  LOC387715  increases the sensitivity (from 63% to 73%). However, the balanced accuracy increases only from 71% to 72%, and the specificity decreases from 80% to 72%.    Conclusions/Significance    C2/CFB  significantly influences AMD susceptibility and although accounting for effects at this locus does not dramatically increase the overall accuracy of the genetic risk model, the improvement over the  CFH-LOC387715  model is statistically significant.

C2 and CFB Genes in Age-Related Maculopathy and Joint Action with CFH and LOC387715 Genes