Universität zu Köln

Stanton, Chloe M., Yates, John R. W., den Hollander, Anneke I., Seddon, Johanna M., Swaroop, Anand ORCID: 0000-0002-1975-1141, Stambolian, Dwight, Fauser, Sascha, Hoyng, Carel, Yu, Yi, Atsuhiro, Kanda, Branham, Kari ORCID: 0000-0002-2492-254X, Othman, Mohammad, Chen, Wei ORCID: 0000-0001-7196-8703, Kortvely, Elod, Chalmers, Kevin, Hayward, Caroline ORCID: 0000-0002-9405-9550, Moore, Anthony T., Dhillon, Baljean, Ueffing, Marius and Wright, Alan F. (2011). Complement Factor D in Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci., 52 (12). S. 8828 - 8835. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 0146-0404

Full text not available from this repository.

Abstract

PURPOSE. To examine the role of complement factor D (CFD) in age-related macular degeneration (AMD) by analysis of genetic association, copy number variation, and plasma CFD concentrations. METHODS. Single nucleotide polymorphisms (SNPs) in the CFD gene were genotyped and the results analyzed by binary logistic regression. CFD gene copy number was analyzed by gene copy number assay. Plasma CFD was measured by an enzyme-linked immunosorbent assay. RESULTS. Genetic association was found between CFD gene SNP rs3826945 and AMD (odds ratio 1.44; P = 0.028) in a small discovery case-control series (462 cases and 325 controls) and replicated in a combined cohorts meta-analysis of 4765 cases and 2693 controls, with an odds ratio of 1.11 (P = 0.032), with the association almost confined to females. Copy number variation in the CFD gene was identified in 13 out of 640 samples examined but there was no difference in frequency between AMD cases (1.3%) and controls (2.7%). Plasma CFD concentration was measured in 751 AMD cases and 474 controls and found to be elevated in AMD cases (P = 0.00025). The odds ratio for those in the highest versus lowest quartile for plasma CFD was 1.81. The difference in plasma CFD was again almost confined to females. CONCLUSIONS. CFD regulates activation of the alternative complement pathway, which is implicated in AMD pathogenesis. The authors found evidence for genetic association between a CFD gene SNP and AMD and a significant increase in plasma CFD concentration in AMD cases compared with controls, consistent with a role for CFD in AMD pathogenesis. (Invest Ophthalmol Vis Sci. 2011;52:8828-8834) DOI:10.1167/iovs.11-7933

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Stanton, Chloe M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Yates, John R. W. UNSPECIFIED UNSPECIFIED UNSPECIFIED den Hollander, Anneke I. UNSPECIFIED UNSPECIFIED UNSPECIFIED Seddon, Johanna M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Swaroop, Anand UNSPECIFIED orcid.org/0000-0002-1975-1141 UNSPECIFIED Stambolian, Dwight UNSPECIFIED UNSPECIFIED UNSPECIFIED Fauser, Sascha UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyng, Carel UNSPECIFIED UNSPECIFIED UNSPECIFIED Yu, Yi UNSPECIFIED UNSPECIFIED UNSPECIFIED Atsuhiro, Kanda UNSPECIFIED UNSPECIFIED UNSPECIFIED Branham, Kari UNSPECIFIED orcid.org/0000-0002-2492-254X UNSPECIFIED Othman, Mohammad UNSPECIFIED UNSPECIFIED UNSPECIFIED Chen, Wei UNSPECIFIED orcid.org/0000-0001-7196-8703 UNSPECIFIED Kortvely, Elod UNSPECIFIED UNSPECIFIED UNSPECIFIED Chalmers, Kevin UNSPECIFIED UNSPECIFIED UNSPECIFIED Hayward, Caroline UNSPECIFIED orcid.org/0000-0002-9405-9550 UNSPECIFIED Moore, Anthony T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dhillon, Baljean UNSPECIFIED UNSPECIFIED UNSPECIFIED Ueffing, Marius UNSPECIFIED UNSPECIFIED UNSPECIFIED Wright, Alan F. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-486669
DOI:	10.1167/iovs.11-7933
Journal or Publication Title:	Invest. Ophthalmol. Vis. Sci.
Volume:	52
Number:	12
Page Range:	S. 8828 - 8835
Date:	2011
Publisher:	ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Place of Publication:	ROCKVILLE
ISSN:	0146-0404
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ALTERNATIVE PATHWAY; SERINE-PROTEASE; ADIPOSE-TISSUE; BIOSYNTHESIS; ACTIVATION; COMPONENTS; PROTEINS; SUSCEPTIBILITY; ASSOCIATION; ADIPOCYTES Multiple languages Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48666