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
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.
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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
February 2012
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), .
(doi:10.1016/j.imbio.2011.07.015).
(PMID:21852020)
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
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Date deposited: 05 Sep 2011 08:39
Last modified: 15 Mar 2024 03:24
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Author:
S. Hakobyan
Author:
C.L. Harris
Author:
B.P. Morgan
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