Six Types of Pancreatitis Risk Factors in the Trypsinogen Gene Loci (PRSS1-PRSS2-TRB).

Trypsin dysregulation is central to acute pancreatitis (AP) and contributes to chronic pancreatitis (CP). Genetic variants within the T Cell receptor beta chain (TRB) locus, that includes the trypsinogen genes (PRSS1 and PRSS2) affect risks of AP and CP. Hereditary pancreatitis is caused by rare gain-of-function variants (e.g. PRSS1 p.N29I, p.R122H), while other common and rare variants alter risk for AP and/or CP through 5 other mechanisms, including altering the TRB gene receptor repertoire. Here we provide a brief primer of genetic risk for AP and CP using examples of variants within the TRB locus and the PRSS1 and PRSS2 genes