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The complement component 5 gene and age-related macular degeneration

The complement component 5 gene and age-related macular degeneration
The complement component 5 gene and age-related macular degeneration
Objective
To investigate the association between variants in the complement component 5 (C5) gene and age-related macular degeneration (AMD). Design
Separate and combined data from 3 large AMD case-control studies and a prospective population-based study (The Rotterdam Study). Participants
A total of 2599 AMD cases and 3458 ethnically matched controls. Methods
Fifteen single nucleotide polymorphisms (SNPs) spanning the C5 gene were initially genotyped in 375 cases and 199 controls from The Netherlands (The Amsterdam/Rotterdam-Netherlands [AMRO-NL] study population). Replication testing of selected SNPs was performed in the Rotterdam Study (NL) and study populations from Southampton, United Kingdom (UK), and New York, United States (US). Main Outcome Measures
Early and late stages of prevalent and incident AMD, graded according to (a modification of) the international grading and classification system of AMD. Results
Significant allelic or genotypic associations between 8 C5 SNPs and AMD were found in the AMRO-NL study and this risk seemed to be independent of CFH Y402H, LOC387715 A69S, age, and gender. None of these findings could be confirmed consistently in 3 replication populations. Conclusions
Although the complement pathway, including C5, plays a crucial role in AMD, and the C5 protein is present in drusen, no consistent significant associations between C5 SNPs and AMD were found in any of these studies. The implications for genetic screening of AMD are discussed. Financial Disclosure(s)
The authors have no proprietary or commercial interest in any of the materials discussed in this article.
500-511
Baas, Dominique C.
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Ho, Lintje
c8a0385a-14e4-4ce4-94fe-69b4fe351ad1
Ennis, Sarah
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Merriam, Joanna E.
66fe67e6-82a5-4840-b1ef-ea38c3ea92a8
Tanck, Michael W.T.
1bc26c04-df90-4691-82cc-788faefade37
Uitterlinden, André G.
dc200777-839b-47ad-9df6-c6c3e2e0b023
de Jong, Paulus T.V.M.
8079c2b8-739e-4fbd-850d-51824ce0589b
Cree, Angela J.
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Griffiths, Helen L.
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Rivadeneira, Fernando
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Hofman, Albert
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van Duijn, Cornelia
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Smith, R. Theodore
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Barile, Gaetano R.
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Gorgels, Theo G.M.F.
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Vingerling, Johannes R.
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Klaver, Caroline C.W.
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Lotery, Andrew J.
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Allikmets, Rando
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Bergen, Arthur A.B.
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Baas, Dominique C.
02659738-2f81-4cf3-83a1-81104003afdb
Ho, Lintje
c8a0385a-14e4-4ce4-94fe-69b4fe351ad1
Ennis, Sarah
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Merriam, Joanna E.
66fe67e6-82a5-4840-b1ef-ea38c3ea92a8
Tanck, Michael W.T.
1bc26c04-df90-4691-82cc-788faefade37
Uitterlinden, André G.
dc200777-839b-47ad-9df6-c6c3e2e0b023
de Jong, Paulus T.V.M.
8079c2b8-739e-4fbd-850d-51824ce0589b
Cree, Angela J.
6724b71b-8828-4abb-971f-0856c2af555e
Griffiths, Helen L.
a097fdaa-d3d6-49a9-9c69-0e6e5a5d518b
Rivadeneira, Fernando
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Hofman, Albert
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van Duijn, Cornelia
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Smith, R. Theodore
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Barile, Gaetano R.
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Gorgels, Theo G.M.F.
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Vingerling, Johannes R.
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Klaver, Caroline C.W.
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Lotery, Andrew J.
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Allikmets, Rando
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Bergen, Arthur A.B.
befeadb8-1125-483d-8c02-51c5d362bd57

Baas, Dominique C., Ho, Lintje, Ennis, Sarah, Merriam, Joanna E., Tanck, Michael W.T., Uitterlinden, André G., de Jong, Paulus T.V.M., Cree, Angela J., Griffiths, Helen L., Rivadeneira, Fernando, Hofman, Albert, van Duijn, Cornelia, Smith, R. Theodore, Barile, Gaetano R., Gorgels, Theo G.M.F., Vingerling, Johannes R., Klaver, Caroline C.W., Lotery, Andrew J., Allikmets, Rando and Bergen, Arthur A.B. (2010) The complement component 5 gene and age-related macular degeneration. Ophthalmology, 117 (3), 500-511. (doi:10.1016/j.ophtha.2009.08.032).

Record type: Article

Abstract

Objective
To investigate the association between variants in the complement component 5 (C5) gene and age-related macular degeneration (AMD). Design
Separate and combined data from 3 large AMD case-control studies and a prospective population-based study (The Rotterdam Study). Participants
A total of 2599 AMD cases and 3458 ethnically matched controls. Methods
Fifteen single nucleotide polymorphisms (SNPs) spanning the C5 gene were initially genotyped in 375 cases and 199 controls from The Netherlands (The Amsterdam/Rotterdam-Netherlands [AMRO-NL] study population). Replication testing of selected SNPs was performed in the Rotterdam Study (NL) and study populations from Southampton, United Kingdom (UK), and New York, United States (US). Main Outcome Measures
Early and late stages of prevalent and incident AMD, graded according to (a modification of) the international grading and classification system of AMD. Results
Significant allelic or genotypic associations between 8 C5 SNPs and AMD were found in the AMRO-NL study and this risk seemed to be independent of CFH Y402H, LOC387715 A69S, age, and gender. None of these findings could be confirmed consistently in 3 replication populations. Conclusions
Although the complement pathway, including C5, plays a crucial role in AMD, and the C5 protein is present in drusen, no consistent significant associations between C5 SNPs and AMD were found in any of these studies. The implications for genetic screening of AMD are discussed. Financial Disclosure(s)
The authors have no proprietary or commercial interest in any of the materials discussed in this article.

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Published date: March 2010

Identifiers

Local EPrints ID: 72177
URI: https://eprints.soton.ac.uk/id/eprint/72177
PURE UUID: 0226a8af-b191-47f9-8bff-223997536e6b
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 28 Jan 2010
Last modified: 31 Jan 2019 01:37

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Contributors

Author: Dominique C. Baas
Author: Lintje Ho
Author: Sarah Ennis ORCID iD
Author: Joanna E. Merriam
Author: Michael W.T. Tanck
Author: André G. Uitterlinden
Author: Paulus T.V.M. de Jong
Author: Angela J. Cree
Author: Helen L. Griffiths
Author: Fernando Rivadeneira
Author: Albert Hofman
Author: Cornelia van Duijn
Author: R. Theodore Smith
Author: Gaetano R. Barile
Author: Theo G.M.F. Gorgels
Author: Johannes R. Vingerling
Author: Caroline C.W. Klaver
Author: Rando Allikmets
Author: Arthur A.B. Bergen

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