title: Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis.
abstract: OBJECTIVE
  Mutations in the cationic trypsinogen gene have been detected in patients with hereditary pancreatitis (HP). This study investigates the prevalence of the R122H, N29I, A16V and -28delTCC mutations in the common, non-hereditary forms of chronic pancreatitis and in a HP family.
  
  
  METHODS
  DNA was prepared from blood samples of 53 patients with chronic pancreatitis (36 alcoholic, 14 idiopathic and 3 hereditary), 20 alcoholic controls and 20 healthy, ethnically matched controls. The R122H and A16V mutations were identified by the polymerase chain reaction (PCR) and restriction enzyme digestion. A nested-PCR was used to identify the N29I mutation. The -28delTCC deletion and the C133807T polymorphism were sought by direct sequencing.
  
  
  RESULTS
  The R122H mutation was detected in 1 patient with alcoholic chronic pancreatitis and all 3 affected members of a HP family. The N29I, A16V and -28delTCC mutations were not detected in any of the study subjects. At the C133807T polymorphism, the C allele and C/C genotype were significantly increased in alcoholic chronic pancreatitis (p = 0.001 and p = 0.0004, respectively) while the T allele and CT genotype were significantly reduced (p = 0.001 and p = 0.004, respectively) compared to healthy controls.
  
  
  CONCLUSIONS
  Mutations of the cationic trypsinogen gene are rarely found in chronic pancreatitis patients of typical aetiology. Screening for these mutations should be considered in those with a family history consistent with hereditary pancreatitis but may also be appropriate in a well-defined subgroup of patients with non-hereditary chronic pancreatitis, i.e. those who have developed the disease before the age of 30.
authors.affiliation: Department of Surgery, Derriford Hospital and University of Plymouth, UK.
authors.forename: D A
authors.initials: DA
authors.lastname: O'Reilly
authors.forename: B M
authors.initials: BM
authors.lastname: Yang
authors.forename: J E
authors.initials: JE
authors.lastname: Creighton
authors.forename: A G
authors.initials: AG
authors.lastname: Demaine
authors.forename: A N
authors.initials: AN
authors.lastname: Kingsnorth
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002908:Chronic Disease; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics*
chemical_list: C064831:PRSS2 protein, human; D014362:Trypsinogen; D004247:DNA; D014357:Trypsin