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 activation levels in both patients and controls. These findings are relevant in the context of complement-lowering treatments for AMD that are currently under development. Patients with a genetic predisposition to higher complement activation levels will potentially benefit the most of such treatments.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Paun CC,Lechanteur YTE,Groenewoud JMM,Altay L,Schick T,Daha MR,Fauser S,Hoyng CB,den Hollander AI,de Jong EKdoi
10.1038/srep26568subject
Has Abstractpub_date
2016-05-31 00:00:00pages
26568issn
2045-2322pii
srep26568journal_volume
6pub_type
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