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Genetic background of autoimmune hepatitis in Japan

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Abstract

Autoimmune hepatitis (AIH) is an organ-specific autoimmune disease characterized by chronic inflammation of the liver. Several studies from ethnically different countries have clarified that the genetic predisposition to type 1 AIH is linked mainly to human leukocyte antigen (HLA)-class II genes. Recently, molecular analysis using polymerase chain reaction (PCR)-based DNA typing has revealed that susceptibility to type 1 AIH is primarily associated with the HLA class II DRB1 locus, which encodes a polymorphic β chain of the HLA-DR antigen. However, additional susceptibility genes (either HLA or non-HLA) and/or environmental factors may also contribute to the development of type 1 AIH; in Japanese type 1 AIH patients, although the most influential gene in disease susceptibility is HLA-DRB1*04:05, several other genes have been identified as being involved in AIH pathogenesis or resistance and are the currently the focus of single nucleotide polymorphism analysis.

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Abbreviations

AIH:

Autoimmune hepatitis

CTLA-4:

Cytotoxic T lymphocyte antigen-4

HLA:

Human leukocyte antigen

SNPs:

Single nucleotide polymorphisms

TNF-α:

Tumor necrosis factor-α

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Acknowledgments

The authors who have taken part in this study state that they have nothing to declare regarding funding from industry or conflict of interest with respect to this manuscript. We thank Yuki Akahane, Asami Yamazaki, and Toyo Amaki for their technical assistance, and Trevor Ralph for his English editorial assistance. This study was supported in part by a research grant from the Japanese Ministry of Education, Culture and Technology (22590725) and a Health Labour Sciences Research Grant from the Japanese Ministry of Health, Labour and Welfare and the Foundation of Nagano Prefecture for Promoting Science.

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Authors and Affiliations

  1. Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan

    Kaname Yoshizawa & Takeji Umemura

  2. Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan

    Masao Ota

Authors
  1. Kaname Yoshizawa
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  2. Takeji Umemura
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Correspondence to Kaname Yoshizawa.

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Yoshizawa, K., Umemura, T. & Ota, M. Genetic background of autoimmune hepatitis in Japan. J Gastroenterol 46 (Suppl 1), 42–47 (2011). https://doi.org/10.1007/s00535-010-0333-2

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  • DOI: https://doi.org/10.1007/s00535-010-0333-2

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