NDLI: Complement factor D in age-related macular degeneration.

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Complement factor D in age-related macular degeneration.

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Complement factor D in age-related macular degeneration.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Stanton, Chloe M. Branham, Kari Yu, Yi Fauser, Sascha Dhillon, Baljean Seddon, Johanna M. Ueffing, Marius Yates, John R. W. Othman, Mohammad Moore, Anthony T. Swaroop, Anand Atsuhiro, Kanda Chen, Wei Chalmers, Kevin Den Hollander, Anneke I. Kortvely, Elod Wright, Alan F. Hoyng, Carel Stambolian, Dwight Hayward, Caroline
Description	Country affiliation: United kingdom Author Affiliation: Stanton CM ( MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom.)
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.
ISSN	01460404
e-ISSN	15525783
DOI	10.1167/iovs.11-7933
Journal	Investigative Opthalmology & Visual Science
Issue Number	12
Volume Number	52
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2011-11-11
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Complement Pathway, Alternative Physiology Macular Degeneration Genetics Polymorphism, Single Nucleotide Cohort Studies Complement Factor D Metabolism Gene Dosage Genotype Blood Meta-analysis Research Support, N.i.h., Extramural Research Support, N.i.h., Intramural Research Support, Non-u.s. Gov't Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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