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Cytokine gene polymorphisms in inflammatory bowel disease
E Louis1, J Satsangi, M Roussomoustakaki
1Gastroenterology Unit, Radcliffe Infirmary, Oxford.
Gut
|November 1, 1996
Summary
Genetic factors influence inflammatory bowel disease (IBD). This study found modest associations between specific cytokine gene polymorphisms and IBD, suggesting they are unlikely major determinants of overall disease susceptibility.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Genetic susceptibility plays a role in inflammatory bowel disease (IBD) pathogenesis, evidenced by sibling and twin concordance rates.
- The specific genes contributing to IBD susceptibility remain largely unidentified.
- Cytokine genes are considered potential candidate loci for IBD susceptibility.
Purpose of the Study:
- To investigate the allelic frequencies of polymorphisms in the interleukin-1 receptor antagonist (IL-1RA) gene and the tumor necrosis factor alpha (TNF) gene.
- To assess the association of these gene polymorphisms with inflammatory bowel disease (IBD) in a North European Caucasian population.
Main Methods:
- Genotyping of 129 ulcerative colitis patients, 120 Crohn's disease patients, and 89 healthy controls using polymerase chain reaction.
- Analysis of the variable number of tandem repeats (VNTR) in the IL-1RA gene.
- Analysis of a single nucleotide polymorphism (SNP) at position -308 in the TNF alpha gene promoter region (TNF-308).
Main Results:
- No significant differences in IL-1RA VNTR allelic frequencies were observed between patients with Crohn's disease, ulcerative colitis, and healthy controls.
- Allele 2 of the IL-1RA gene was carried by a higher percentage of IBD patients (42.4% UC, 43.4% CD) compared to healthy controls (34.8%).
- The TNF2 allele was found to be modestly reduced in Crohn's disease patients (13.2%) compared to healthy subjects (21.3%) and ulcerative colitis patients (21.6%).
Conclusions:
- The observed associations between IL-1RA and TNF gene polymorphisms and IBD are modest.
- These specific polymorphisms are unlikely to be major determinants of overall susceptibility to inflammatory bowel disease.
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