Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis.
BACKGROUND
Pancreas divisum has been associated with idiopathic pancreatitis. However, the causal association remains controversial.


OBJECTIVE
To study the gene mutations in patients with pancreas divisum presenting with idiopathic pancreatitis.


METHODS
All consecutive patients with pancreas divisum presenting with recurrent pancreatitis were included in the study. Fifty healthy volunteers, 30 patients with chronic pancreatitis, and 14 patients with idiopathic recurrent acute pancreatitis without pancreas divisum served as controls. Patients and controls were tested for cationic trypsiongen gene, CFTR gene and SPINK1 gene mutations.


RESULTS
Of the 12 patients with pancreas divisum and idiopathic pancreatitis, 4 had SPINK1 N34S gene mutation-3 were heterozygous and 1 was homozygous, and 1 had P55S mutation compared with 1 of 50 healthy controls with N34S mutation (P=0.001). The frequency of SPINK1 mutation was similar among patients with pancreas divisum and pancreatitis (41.6%), chronic pancreatitis (43.3%), and recurrent acute pancreatitis without pancreas divisum (35.7%). Five patients with pancreas divisum had polymorphisms in the CFTR gene.


CONCLUSIONS
Patients with pancreas divisum presenting with idiopathic pancreatitis had a higher frequency of SPINK1 gene mutation compared with healthy controls, which might be responsible as the sole-factor or a co-factor in causing pancreatitis in them.
Garg
Pramod Kumar
PK
Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi, India. pkgarg@aiims.ac.in
Khajuria
Rajni
R
Kabra
Madhulika
M
Shastri
Shivaram S
SS
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010179:Pancreas / Q000002:abnormalities*; D010195:Pancreatitis / Q000235:genetics* / Q000628:therapy; D050500:Pancreatitis, Chronic / Q000235:genetics / Q000628:therapy; D010641:Phenotype; D011110:Polymorphism, Genetic; D012008:Recurrence; D012307:Risk Factors; D016896:Treatment Outcome; D014357:Trypsin / Q000235:genetics; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin