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Baljean Dhillon, Alan F. Wright, Adnan Tufail, Isabel Pappworth, Caroline Hayward, Iain Moore, Lisa Strain, David Kavanagh, Paul N. Barlow, Andrew P. Herbert, Christoph Q. Schmidt, Ana-Maria Armbrecht, Augustinus Laude, Ian J. Deary, Scott J. Staniforth, Lucy V. Holmes, Timothy H. J. Goodship, Kevin J. Marchbank; Complement Factor H Autoantibodies and Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2010;51(11):5858-5863. doi: 10.1167/iovs.09-5124.
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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.
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