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

Gibson, J., Hakobyan, Svetlana, Cree, A. J., Collins, A., Harris, Claire Louise, Ennis, S., Morgan, Bryan Paul ORCID: https://orcid.org/0000-0003-4075-7676 and Lotery, A. J. 2012. Variation in complement component C1 inhibitor in age-related macular degeneration. Immunobiology 217 (2) , pp. 251-255. 10.1016/j.imbio.2011.07.015

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Systems Immunity Research Institute (SIURI)
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Uncontrolled Keywords:	age-related macular degeneration, complement pathways, complement component C1 inhibitor, SERPING1
Publisher:	Elsevier
ISSN:	0171-2985
Last Modified:	06 Dec 2022 09:41
URI:	https://orca.cardiff.ac.uk/id/eprint/25539

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