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Complement Factor H Autoantibodies and Age-Related Macular Degeneration

Lookup NU author(s): Dr Isabel Pappworth, Dr Iain Moore, Dr Lisa Turnbull, Professor David KavanaghORCiD, James Staniforth, Dr Lucy Holmes, Professor Tim Goodship, Professor Kevin MarchbankORCiD


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PURPOSE. In this case-control study, the hypothesis that factor H autoantibodies are associated with age-related macular degeneration (AMD) was examined. METHODS. One hundred AMD patients (median age, 78 years), 98 age-matched control subjects (median age, 78 years) known not to have AMD, and 100 healthy blood donors (median age, 43 years) were enrolled. An enzyme-linked immunosorbent assay (ELISA) was used to screen for complement factor H autoantibodies and either quantitative polymerase chain reaction (qPCR) or multiplex ligation-dependent probe amplification (MLPA) were performed to measure the copy number of the gene encoding complement factor H-related protein 3 (CFHR3). RESULTS. There was a significant difference in the median complement factor H autoantibody titer between the three groups (AMD patients, 196 reference units [RU]]; age-match control subjects, 316 RU; and blood donor control subjects, 121 RU; Kruskal-Wallis test, P < 0.001). Pair-wise comparison (Mann-Whitney test) showed that all three groups were significantly different from each other. Two different thresholds were used in the healthy blood donors to identify individuals with complement factor H autoantibodies. Both suggested that the prevalence of factor H autoantibodies was decreased in AMD patients. The CFHR3 copy number was measured as a surrogate for the deletion of the genes encoding complement factor H-related proteins 3 and 1 (CFHR3/1). The allele frequency of the deletion was significantly higher in the age-matched control subjects than in the AMD patients (22.2% vs. 8.2%). CONCLUSIONS. The level of factor H autoantibodies is lower in AMD patients than in age-matched control subjects. (Invest Ophthalmol Vis Sci. 2010;51:5858-5863) DOI:10.1167/iovs.09-5124

Publication metadata

Author(s): Dhillon B, Wright AF, Tufail A, Pappworth I, Hayward C, Moore I, Strain L, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Armbrecht AM, Laude A, Deary IJ, Staniforth SJ, Holmes LV, Goodship THJ, Marchbank KJ

Publication type: Article

Publication status: Published

Journal: Investigative Ophthalmology & Visual Science

Year: 2010

Volume: 51

Issue: 11

Pages: 5858-5863

Print publication date: 30/06/2010

ISSN (print): 0146-0404

ISSN (electronic): 1552-5783

Publisher: Association for Research in Vision and Ophthalmology


DOI: 10.1167/iovs.09-5124


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Funder referenceFunder name
Age-Related Disease Award
Macula Vision Research Foundation
U.K. National Institute of Health Research (NIHR) Biomedical Research Centre for Ageing
CZB/4/79Chief Scientist Office (Scotland)