Extended haplotypes in the complement factor H (<i>CFH</i>) and CFH‐related (<i>CFHR</i>) family of genes protect against age‐related macular degeneration: Characterization, ethnic distribution and evolutionary implications

Abstract

The absence of CFHR1 and/or CFHR3 may account for the protective effects conferred by some CFH haplotypes. Moreover, the high frequencies of the 402H allele and the delCFHR1/CFHR3 alleles in African populations suggest an ancient origin for these alleles. The considerable diversity accumulated at this locus may be due to selection, which is consistent with an important role for the CFHR genes in innate immunity.