Universität zu Köln

Paun, Constantin C., Lechanteur, Yara T. E., Groenewoud, Joannes M. M., Altay, Lebriz, Schick, Tina, Daha, Mohamed R., Fauser, Sascha, Hoyng, Carel B., den Hollander, Anneke I. and de Jong, Eiko K. (2016). A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Paun, Constantin C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lechanteur, Yara T. E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Groenewoud, Joannes M. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Altay, Lebriz UNSPECIFIED UNSPECIFIED UNSPECIFIED Schick, Tina UNSPECIFIED UNSPECIFIED UNSPECIFIED Daha, Mohamed R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fauser, Sascha UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyng, Carel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED den Hollander, Anneke I. UNSPECIFIED UNSPECIFIED UNSPECIFIED de Jong, Eiko K. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-275134
DOI:	10.1038/srep26568
Journal or Publication Title:	Sci Rep
Volume:	6
Date:	2016
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	2045-2322
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FACTOR-H; ALTERNATIVE PATHWAY; FACTOR-B; RISK; PROTEIN; VARIANT; SYSTEM; C3B; INFLAMMATION; POLYMORPHISM Multiple languages Multidisciplinary Sciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27513