A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo.

ABSTRACT: The complement system is the first line of defense against foreign intruders, and deregulation of this system has been described in multiple diseases. In age-related macular degeneration (AMD), patients have higher complement activation levels compared to controls. Recently, a combination of three single nucleotide polymorphisms (SNPs) in genes of the complement system, referred to as a complotype, has been described to increase complement activation in vitro. Here we describe a novel complotype composed of CFB (rs4151667)-CFB (rs641153)-CFH (rs800292), which is strongly associated with both AMD disease status (p = 5.84*10(-13)) and complement activation levels in vivo (p = 8.31*10(-9)). The most frequent genotype combination of this complotype was associated with the highest complement ac

SUBMITTER: Paun CC 

PROVIDER: S-EPMC4886525 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature