Six Types of Pancreatitis Risk Factors in the Trypsinogen Gene Loci (PRSS1-PRSS2-TRB).
Genetics of the PRSS1-PRSS2-TRB locus
DOI:
https://doi.org/10.69734/x2yz2m74Keywords:
pancreatitis , hereditary pancreatitis, genetic risk factor, trypsinogen, trypsin, PRSS1-PRSS2, precision medicineAbstract
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
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