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Variation in complement component C1 inhibitor in age-related macular degeneration

Variation in complement component C1 inhibitor in age-related macular degeneration
Variation in complement component C1 inhibitor in age-related macular degeneration
This study assessed variation in plasma levels of the complement regulatorC1 inhibitor (C1inh) in patients with age related macular degeneration (AMD) and controls. Plasma from391 AMD cases and 370 controls was assayed by rate nephelometry to determine C1inh protein levels. Protein levels were analysed for relationships with age, gender, smoking, AMD disease status and genetic variation in the SERPING1 gene, which encodes C1inh, using a multivariate analysis. t-Tests show a significant difference in C1inh levels in AMD cases compared with controls (p = 2.340E-6), smokers compared to non-smokers (p = 1.022E-4) and females compared to males (p = 1.661E-7). Multivariate analysis shows that after accounting for gender and smoking AMD status remained significant. Age was included in the model but was not significant. Including genetic variation in the model shows that one significant SNP (rs2649663) 5? of the SERPING1 gene is associated with C1inh levels though this SNP is not associated with AMD. This suggests that genetic variation in the promoter region of the SERPING1 gene may influence expression of the gene.

age-related macular degeneration, complement pathways, complement component c1 inhibitor, serping1
0171-2985
251-255
Gibson, J.
855033a6-38f3-4853-8f60-d7d4561226ae
Hakobyan, S.
28200c56-d567-4e29-8422-5e036683f59c
Cree, A.J.
6724b71b-8828-4abb-971f-0856c2af555e
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Harris, C.L.
bbb5485b-d6b1-4aff-9e43-fbf1e45a3d64
Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9
Morgan, B.P.
50fd51be-bf48-494c-9e38-8c817b0aed61
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Gibson, J.
855033a6-38f3-4853-8f60-d7d4561226ae
Hakobyan, S.
28200c56-d567-4e29-8422-5e036683f59c
Cree, A.J.
6724b71b-8828-4abb-971f-0856c2af555e
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Harris, C.L.
bbb5485b-d6b1-4aff-9e43-fbf1e45a3d64
Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9
Morgan, B.P.
50fd51be-bf48-494c-9e38-8c817b0aed61
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Gibson, J., Hakobyan, S., Cree, A.J., Collins, A., Harris, C.L., Ennis, S., Morgan, B.P. and Lotery, A.J. (2012) Variation in complement component C1 inhibitor in age-related macular degeneration. Immunobiology, 217 (2), 251-255. (doi:10.1016/j.imbio.2011.07.015). (PMID:21852020)

Record type: Article

Abstract

This study assessed variation in plasma levels of the complement regulatorC1 inhibitor (C1inh) in patients with age related macular degeneration (AMD) and controls. Plasma from391 AMD cases and 370 controls was assayed by rate nephelometry to determine C1inh protein levels. Protein levels were analysed for relationships with age, gender, smoking, AMD disease status and genetic variation in the SERPING1 gene, which encodes C1inh, using a multivariate analysis. t-Tests show a significant difference in C1inh levels in AMD cases compared with controls (p = 2.340E-6), smokers compared to non-smokers (p = 1.022E-4) and females compared to males (p = 1.661E-7). Multivariate analysis shows that after accounting for gender and smoking AMD status remained significant. Age was included in the model but was not significant. Including genetic variation in the model shows that one significant SNP (rs2649663) 5? of the SERPING1 gene is associated with C1inh levels though this SNP is not associated with AMD. This suggests that genetic variation in the promoter region of the SERPING1 gene may influence expression of the gene.

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More information

Accepted/In Press date: 23 July 2011
Published date: February 2012
Keywords: age-related macular degeneration, complement pathways, complement component c1 inhibitor, serping1
Organisations: Human Development & Health, Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 196105
URI: http://eprints.soton.ac.uk/id/eprint/196105
ISSN: 0171-2985
PURE UUID: 61ac8d3f-9d00-46a6-aeed-ad929438e4a7
ORCID for J. Gibson: ORCID iD orcid.org/0000-0002-0973-8285
ORCID for A.J. Cree: ORCID iD orcid.org/0000-0002-1987-8900
ORCID for A. Collins: ORCID iD orcid.org/0000-0001-7108-0771
ORCID for S. Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for A.J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 05 Sep 2011 08:39
Last modified: 15 Mar 2024 03:24

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Contributors

Author: J. Gibson ORCID iD
Author: S. Hakobyan
Author: A.J. Cree ORCID iD
Author: A. Collins ORCID iD
Author: C.L. Harris
Author: S. Ennis ORCID iD
Author: B.P. Morgan
Author: A.J. Lotery ORCID iD

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