Pancreatic secretory trypsin inhibitor (SPINK1) gene mutations in patients with acute pancreatitis.
OBJECTIVE
Mutations in the secretory trypsin inhibitor (SPINK1) gene have been found to be associated with hereditary and chronic pancreatitis. There are no previous reports on SPINK1 mutations in patients with acute pancreatitis (AP).


METHODS
The study population consists of 371 patients with AP, of which 207 patients had mild and 164 had a severe form of the disease. The etiologies of AP were identified. Four hundred fifty-nine blood donors served as controls. SPINK1 N34S and P55S mutations were detected by minisequencing and confirmed by direct sequencing.


RESULTS
The N34S mutation was found in 29 (7.8%) of the patients and in 12 (2.6%) of the controls (P < 0.0001, Fisher exact test). There was no difference in the frequency of the P55SS mutation between the groups. A majority of the patients (n = 229; 61.7%) had alcohol-induced AP. The frequency of the N34S mutation was higher in the subgroups of severe AP (15/164; 9.1%) and alcohol-induced AP (21/229; 9.2%), but the differences were not statistically significant. No differences in age at admission and number of attacks of AP were observed between the groups.


CONCLUSIONS
SPINK1 N34S mutation enhances the susceptibility of AP.
Tukiainen
Eija
E
Second Department of Surgery, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Kylänpää
Marja-Leena
ML
Kemppainen
Esko
E
Nevanlinna
Heli
H
Paju
Annukka
A
Repo
Heikki
H
Stenman
Ulf-Håkan
UH
Puolakkainen
Pauli
P
D000208:Acute Disease; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010195:Pancreatitis / Q000235:genetics*; D017354:Point Mutation; D012720:Severity of Illness Index; D014359:Trypsin Inhibitor, Kazal Pancreatic
D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic