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IL18 polymorphism is associated with an increased risk of Crohn’s disease

  • Gastroenterology and genetics—polymorphic gene and disease-caused gene
  • Published:
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Abstract

Background. The etiology of inflammatory bowel disease, which includes ulcerative colitis and Crohn’s disease, has not yet been made clear. However, inflammatory bowel disease is recognized as a multifactorial disease, and innate genetic factors might contribute to the pathogenesis. Cytokine genes are thought to be important in inflammatory bowel disease. Recently, interleukin 18, cloned as a novel proinflammatory cytokine, has been implicated in inflammatory bowel disease, especially Crohn’s disease. Methods. To identify germline mutations in patients with inflammatory bowel disease, the entire coding region of IL18 was examined using a DNA sequencing procedure. Results. No functional mutations were found, but a novel single nucleotide polymorphism (SNP) was identified as TCA/ TCC at codon 35. In patients with Crohn’s disease, the frequency of TCC allele carriers was significantly higher than in healthy controls (χ2 = 9.35, P = 0.002229, OR = 2.58, 95% CI = 1.39–4.80). Also, the magnitude of the association was more remarkable in females (χ 2 = 16.36, P = 0.000052, OR = 8.17, 95% CI = 2.73–24.41). The TCC allele at codon 35 of IL18 may increase the risk for Crohn’s disease, especially in females. Conclusions. IL18 is probably one of several genes that determine susceptibility to Crohn’s disease.

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Authors and Affiliations

  1. Laboratory of Hereditary Tumor, Institute for Advanced Medical Sciences, Hyogo College of Medicine, 1-1, Mukogawa-cho, Nishinomiya, 663-8501, Japan

    Kazuo Tamura, Yoshihiro Fukuda, Koji Sawada, Kazutami Tamura, Masamichi Satomi, Takehira Yamamura, Yoshihiro Yamamoto, Jun-Ichi Furuyama & Takashi Shimoyama

  2. Division of Gastroenterology, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya, Japan

    Yoshihiro Fukuda, Hiroko Sashio, Naohisa Takeda, Hiroko Bamba, Tadashi Kosaka, Shin Fukui, Koji Sawada, Kazutami Tamura, Masamichi Satomi & Takashi Shimoyama

  3. Second Department of Surgery, Hyogo College of Medicine, Nishinomiya, Japan

    Takahiro Yamada & Takehira Yamamura

  4. Department of Genetics, Hyogo College of Medicine, Nishinomiya, Japan

    Hiroko Sashio, Yoshihiro Yamamoto & Jun-Ichi Furuyama

  5. Laboratory of Host Defence, Institute for Advanced Medical Sciences, Hyogo College of Medicine, Nishinomiya, Japan

    Haruki Okamura

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  1. Kazuo Tamura
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  7. Shin Fukui
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Tamura, K., Fukuda, Y., Sashio, H. et al. IL18 polymorphism is associated with an increased risk of Crohn’s disease. J Gastroenterol 37 (Suppl 14), 111–116 (2002). https://doi.org/10.1007/BF03326428

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  • DOI: https://doi.org/10.1007/BF03326428

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