Complement Factor H Autoantibodies and Age-Related Macular Degeneration

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

doi:10.1167/iovs.09-5124

Complement Factor H Autoantibodies and Age-Related Macular Degeneration

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

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	5858-5863
Number of pages	6
Journal	Investigative Ophthalmology & Visual Science (IOVS)
Volume	51
Issue number	11
DOIs	https://doi.org/10.1167/iovs.09-5124
Publication status	Published - Nov 2010

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10.1167/iovs.09-5124

http://www.iovs.org/content/51/11/5858

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Dhillon, B., Wright, A. F., Tufail, A., Pappworth, I., Hayward, C., Moore, I., Strain, L., Kavanagh, D., Barlow, P. N., Herbert, A. P., Schmidt, C. Q., Armbrecht, A.-M., Laude, A., Deary, I. J., Staniforth, S. J., Holmes, L. V., Goodship, T. H. J., & Marchbank, K. J. (2010). Complement Factor H Autoantibodies and Age-Related Macular Degeneration. Investigative Ophthalmology & Visual Science (IOVS), 51(11), 5858-5863. https://doi.org/10.1167/iovs.09-5124

@article{f7442c065ed645d790f12d1d000c8642,

title = "Complement Factor H Autoantibodies and Age-Related Macular Degeneration",

abstract = "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.",

author = "Baljean Dhillon and Wright, {Alan F.} and Adnan Tufail and Isabel Pappworth and Caroline Hayward and Iain Moore and Lisa Strain and David Kavanagh and Barlow, {Paul N.} and Herbert, {Andrew P.} and Schmidt, {Christoph Q.} and Ana-Maria Armbrecht and Augustinus Laude and Deary, {Ian J.} and Staniforth, {Scott J.} and Holmes, {Lucy V.} and Goodship, {Timothy H. J.} and Marchbank, {Kevin J.}",

year = "2010",

month = nov,

doi = "10.1167/iovs.09-5124",

language = "English",

volume = "51",

pages = "5858--5863",

journal = "Investigative Ophthalmology & Visual Science (IOVS)",

issn = "0146-0404",

publisher = "Association for Research in Vision and Ophthalmology Inc.",

number = "11",

}

Dhillon, B, Wright, AF, Tufail, A, Pappworth, I, Hayward, C, Moore, I, Strain, L, Kavanagh, D, Barlow, PN, Herbert, AP, Schmidt, CQ, Armbrecht, A-M, Laude, A, Deary, IJ, Staniforth, SJ, Holmes, LV, Goodship, THJ & Marchbank, KJ 2010, 'Complement Factor H Autoantibodies and Age-Related Macular Degeneration', Investigative Ophthalmology & Visual Science (IOVS), vol. 51, no. 11, pp. 5858-5863. https://doi.org/10.1167/iovs.09-5124

TY - JOUR

T1 - Complement Factor H Autoantibodies and Age-Related Macular Degeneration

AU - Dhillon, Baljean

AU - Wright, Alan F.

AU - Tufail, Adnan

AU - Pappworth, Isabel

AU - Hayward, Caroline

AU - Moore, Iain

AU - Strain, Lisa

AU - Kavanagh, David

AU - Barlow, Paul N.

AU - Herbert, Andrew P.

AU - Schmidt, Christoph Q.

AU - Armbrecht, Ana-Maria

AU - Laude, Augustinus

AU - Deary, Ian J.

AU - Staniforth, Scott J.

AU - Holmes, Lucy V.

AU - Goodship, Timothy H. J.

AU - Marchbank, Kevin J.

PY - 2010/11

Y1 - 2010/11

N2 - 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.

AB - 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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U2 - 10.1167/iovs.09-5124

DO - 10.1167/iovs.09-5124

M3 - Article

C2 - 20592223

SN - 0146-0404

VL - 51

SP - 5858

EP - 5863

JO - Investigative Ophthalmology & Visual Science (IOVS)

JF - Investigative Ophthalmology & Visual Science (IOVS)

IS - 11

ER -

Complement Factor H Autoantibodies and Age-Related Macular Degeneration

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