Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.

ABSTRACT:

Purpose of review

Not all patients with severe hypertriglyceridemia develop acute pancreatitis. We surveyed recent literature on inter-individual genetic variation in susceptibility to pancreatitis.

Recent findings

Genetic determinants of pancreatitis include: rare Mendelian disorders caused by highly penetrant pathogenic variants in genes involved in trypsinogen activation; uncommon susceptibility variants in genes involved in trypsinogen activation, protein misfolding as well as calcium metabolism and cystic fibrosis, that have variable penetrance and show a range of odds ratios for pancreatitis; and common polymorphisms in many of the same genes that have only a small effect on risk. The role of these genetic variants in modulating pancreatitis risk in hypertriglyceridemi

SUBMITTER: Hang SMT 

PROVIDER: S-EPMC10069755 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature