Genetics of Pancreatitis

  • Atsushi MasamuneEmail author
  • Tooru Shimosegawa


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.


Alcohol dehydrogenase Aldehyde dehydrogenase CTRB CTRC Genome-wide association study Pancreatitis PRSS1 PRSS2 SPINK1 Trypsin 


Conflict of Interest

None declared.


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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Division of GastroenterologyTohoku University Graduate School of MedicineSendaiJapan

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