Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms
THE mechanisms responsible for development of inflammatory bowel disease (IBD) have not been fully elucidated, although the main cause of disease pathology is attributed to up-regulated inflammatory processes. The aim of this study was to investigate frequencies of polymorphisms in genes encoding pr...
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Online Access: | http://dx.doi.org/10.1080/09511920410001713529 |
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doaj-027fe621e6d04defb114765d68518b102020-11-25T00:02:17ZengHindawi LimitedMediators of Inflammation0962-93511466-18612004-01-0113318118710.1080/09511920410001713529Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphismsJoanna Balding0Wendy J. Livingstone1Judith Conroy2Lesley Mynett-Johnson3Donald G. Weir4Nasir Mahmud5Owen P. Smith6Thrombosis and Haemostasis Laboratory, Institute of Molecular Medicine, Trinity Centre for Health Sciences, St James's Hospital, Dublin 8, IrelandThrombosis and Haemostasis Laboratory, Institute of Molecular Medicine, Trinity Centre for Health Sciences, St James's Hospital, Dublin 8, IrelandDepartment of Genetics, Trinity College, Dublin 2, IrelandDepartment of Genetics, Trinity College, Dublin 2, IrelandDepartment of Clinical Medicine, Trinity Centre for Health Sciences, St James's Hospital, Dublin 8, IrelandDepartment of Clinical Medicine, Trinity Centre for Health Sciences, St James's Hospital, Dublin 8, IrelandDepartment of Haematology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, IrelandTHE mechanisms responsible for development of inflammatory bowel disease (IBD) have not been fully elucidated, although the main cause of disease pathology is attributed to up-regulated inflammatory processes. The aim of this study was to investigate frequencies of polymorphisms in genes encoding pro-inflammatory and anti-inflammatory markers in IBD patients and controls. We determined genotypes of patients with IBD (n=172) and healthy controls (n=389) for polymorphisms in genes encoding various cytokines (interleukin (IL)-1β, IL-6, tumour necrosis factor (TNF), IL-10, IL-1 receptor antagonist). Association of these genotypes to disease incidence and pathophysiology was investigated. No strong association was found with occurrence of IBD. Variation was observed between the ulcerative colitis study group and the control population for the TNF-α-308 polymorphism (p=0.0135). There was also variation in the frequency of IL-6-174 and TNF-α-308 genotypes in the ulcerative colitis group compared with the Crohn's disease group (p=0.01). We concluded that polymorphisms in inflammatory genes are associated with variations in IBD phenotype and disease susceptibility. Whether the polymorphisms are directly involved in regulating cytokine production, and consequently pathophysiology of IBD, or serve merely as markers in linkage disequilibrium with susceptibility genes remains unclear.http://dx.doi.org/10.1080/09511920410001713529Inflammatory bowel diseaseCytokinePolymorphism. |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Joanna Balding Wendy J. Livingstone Judith Conroy Lesley Mynett-Johnson Donald G. Weir Nasir Mahmud Owen P. Smith |
spellingShingle |
Joanna Balding Wendy J. Livingstone Judith Conroy Lesley Mynett-Johnson Donald G. Weir Nasir Mahmud Owen P. Smith Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms Mediators of Inflammation Inflammatory bowel disease Cytokine Polymorphism. |
author_facet |
Joanna Balding Wendy J. Livingstone Judith Conroy Lesley Mynett-Johnson Donald G. Weir Nasir Mahmud Owen P. Smith |
author_sort |
Joanna Balding |
title |
Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms |
title_short |
Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms |
title_full |
Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms |
title_fullStr |
Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms |
title_full_unstemmed |
Inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms |
title_sort |
inflammatory bowel disease: the role of inflammatory cytokine gene polymorphisms |
publisher |
Hindawi Limited |
series |
Mediators of Inflammation |
issn |
0962-9351 1466-1861 |
publishDate |
2004-01-01 |
description |
THE mechanisms responsible for development of inflammatory bowel disease (IBD) have not been fully elucidated, although the main cause of disease pathology is attributed to up-regulated inflammatory processes. The aim of this study was to investigate frequencies of polymorphisms in genes encoding pro-inflammatory and anti-inflammatory markers in IBD patients and controls. We determined genotypes of patients with IBD (n=172) and healthy controls (n=389) for polymorphisms in genes encoding various cytokines (interleukin (IL)-1β, IL-6, tumour necrosis factor (TNF), IL-10, IL-1 receptor antagonist). Association of these genotypes to disease incidence and pathophysiology was investigated. No strong association was found with occurrence of IBD. Variation was observed between the ulcerative colitis study group and the control population for the TNF-α-308 polymorphism (p=0.0135). There was also variation in the frequency of IL-6-174 and TNF-α-308 genotypes in the ulcerative colitis group compared with the Crohn's disease group (p=0.01). We concluded that polymorphisms in inflammatory genes are associated with variations in IBD phenotype and disease susceptibility. Whether the polymorphisms are directly involved in regulating cytokine production, and consequently pathophysiology of IBD, or serve merely as markers in linkage disequilibrium with susceptibility genes remains unclear. |
topic |
Inflammatory bowel disease Cytokine Polymorphism. |
url |
http://dx.doi.org/10.1080/09511920410001713529 |
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