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Association of single nucleotide polymorphisms in the interleukin-4 gene and interleukin-4 receptor gene with Crohn's disease in a British population

Lookup NU author(s): Professor Chris Day, Julian Leathart, Professor Ann DalyORCiD, Dr Mark Hudson


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Interleukin-4 (IL-4) is an important cytokine in mucosal immunity and plays a critical role in the development of colitis in T-α cell receptor mutant mice. Functionally significant polymorphisms have been described in the genes encoding IL-4 and IL-4 receptor. To examine the role of these polymorphisms in disease susceptibility 98 patients with ulcerative colitis, 86 patients with Crohn's disease and 321 healthy controls were genotyped for polymorphisms at position -34 in the IL-4 gene and codon 576 in the IL-4 receptor gene. Thirty-two percent of patients with Crohn's disease carried one or two copies of the variant allele for IL-4 compared with 16% of the controls (P = 0.002). Forty-one percent of patients with Crohn's disease carried one or two copies of the variant IL-4 receptor allele compared with 31% of the controls (P = 0.09). Fifteen percent of patients with Crohn's disease carried combination of both (IL-4 and IL-4 receptor) variant alleles compared with 4% of the controls (P = 0.005). Association with alleles resulting in high IL-4 transcription and enhanced signalling activity suggests that IL-4 may have a role in the pathogenesis of Crohn's disease.

Publication metadata

Author(s): Aithal GP, Day CP, Leathart J, Daly AK, Hudson M

Publication type: Article

Publication status: Published

Journal: Genes and Immunity

Year: 2001

Volume: 2

Issue: 1

Pages: 44-47

Online publication date: 28/02/2001

ISSN (print): 1466-4879

ISSN (electronic): 1476-5470

Publisher: Nature Publishing Group


DOI: 10.1038/sj.gene.6363730

PubMed id: 11294568


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