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Genetics of Pancreatitis

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Alcoholic/Non-Alcoholic Digestive Diseases

Abstract

The association between alcohol misuse and chronic pancreatitis (CP) has been recognized for a long time. CP is a multifactorial and a complex disease, and the combination of genetic, environmental, and metabolic factors contributes to its development. Extensive research has been done to clarify the genetic factors. Candidate-gene approaches have focused on variants in the alcohol metabolizing enzymes (alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2)) and known pancreatitis susceptibility genes such as cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), and chymotrypsin C (CTRC). It has been increasingly acknowledged that these previously known pancreatitis susceptibility genes identified in non-alcoholic (hereditary and idiopathic) CP also play a role in alcoholic CP. In addition, recent genome-wide association studies have identified new risk loci: the polymorphisms in the PRSS1-PRSS2 and the CLDN2-RIPPLY1-MORC4 loci and the inversion in the CTRB1-CTRB2 locus. The genetic alterations might at least in part explain a long-standing unsolved question: why only a small portion of heavy drinkers develop pancreatitis.

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None declared.

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Authors and Affiliations

  1. Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Japan

    Atsushi Masamune & Tooru Shimosegawa

Authors
  1. Atsushi Masamune
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  2. Tooru Shimosegawa
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Correspondence to Atsushi Masamune .

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Editors and Affiliations

  1. Third Department of Internal Medicine, Nara Medical University, Kashihara, Japan

    Hitoshi Yoshiji

  2. Third Department of Internal Medicine, Nara Medical University, Kashihara, Japan

    Kosuke Kaji

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Masamune, A., Shimosegawa, T. (2019). Genetics of Pancreatitis. In: Yoshiji, H., Kaji, K. (eds) Alcoholic/Non-Alcoholic Digestive Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-13-1465-0_12

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  • DOI: https://doi.org/10.1007/978-981-13-1465-0_12

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