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Association of SPINK1 Gene Mutation and CFTR Gene Polymorphisms in Patients With Pancreas Divisum Presenting With Idiopathic Pancreatitis

Garg, Pramod Kumar MD, DM*; Khajuria, Rajni MSc*; Kabra, Madhulika MD; Shastri, Shivaram S. MSc, PhD*

Journal of Clinical Gastroenterology: October 2009 - Volume 43 - Issue 9 - p 848-852
doi: 10.1097/MCG.0b013e3181a4e772
LIVER, PANCREAS AND BILIARY TRACT: Original Articles
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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.

Conclusion 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.

Departments of *Gastroenterology

†Pediatrics (Genetics Subdivision), All India Institute of Medical Sciences, New Delhi, India

Funding Source: This study was supported by a financial grant from Indian Council of Medical Research, New Delhi.

Reprints: Pramod Kumar Garg, MD, DM, Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi, India (e-mail: pkgarg@aiims.ac.in).

Received for publication October 23, 2008; accepted March 9, 2009

Conflict of Interest: None of the authors have any conflict of interest.

© 2009 Lippincott Williams & Wilkins, Inc.