Literature DB >> 19593166

Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis.

Pramod Kumar Garg1, Rajni Khajuria, Madhulika Kabra, Shivaram S Shastri.   

Abstract

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.

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Year:  2009        PMID: 19593166     DOI: 10.1097/MCG.0b013e3181a4e772

Source DB:  PubMed          Journal:  J Clin Gastroenterol        ISSN: 0192-0790            Impact factor:   3.062


  24 in total

Review 1.  Chronic pancreatitis in India and Asia.

Authors:  Pramod Kumar Garg
Journal:  Curr Gastroenterol Rep       Date:  2012-04

2.  Pancreas divisum does not cause pancreatitis, but associates with CFTR mutations.

Authors:  Matthew J DiMagno; Eugene P Dimagno
Journal:  Am J Gastroenterol       Date:  2012-02       Impact factor: 10.864

3.  Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Authors:  Alexander Schneider; Jessica Larusch; Xiumei Sun; Amy Aloe; Janette Lamb; Robert Hawes; Peter Cotton; Randall E Brand; Michelle A Anderson; Mary E Money; Peter A Banks; Michele D Lewis; John Baillie; Stuart Sherman; James Disario; Frank R Burton; Timothy B Gardner; Stephen T Amann; Andres Gelrud; Ryan George; Matthew J Rockacy; Sirvart Kassabian; Jeremy Martinson; Adam Slivka; Dhiraj Yadav; Nevin Oruc; M Michael Barmada; Raymond Frizzell; David C Whitcomb
Journal:  Gastroenterology       Date:  2010-10-25       Impact factor: 22.682

Review 4.  Pancreas divisum.

Authors:  Matthew J DiMagno; Erik-Jan Wamsteker
Journal:  Curr Gastroenterol Rep       Date:  2011-04

Review 5.  Insights into the genetic risk factors for the development of pancreatic disease.

Authors:  Zachary Zator; David C Whitcomb
Journal:  Therap Adv Gastroenterol       Date:  2017-01-05       Impact factor: 4.409

Review 6.  Pancreatitis in Children.

Authors:  Aliye Uc; Sohail Z Husain
Journal:  Gastroenterology       Date:  2019-02-01       Impact factor: 22.682

7.  Evaluating Adults With Idiopathic Pancreatitis for Genetic Predisposition: Higher Prevalence of Abnormal Results With Use of Complete Gene Sequencing.

Authors:  Darren D Ballard; Joyce R Flueckiger; Evan L Fogel; Lee McHenry; Glen A Lehman; James L Watkins; Stuart Sherman; Gregory A Coté
Journal:  Pancreas       Date:  2015-01       Impact factor: 3.327

8.  Anatomic variants of the pancreatic duct and their clinical relevance: an MR-guided study in the general population.

Authors:  Robin Bülow; Peter Simon; Robert Thiel; Patrick Thamm; Philip Messner; Markus M Lerch; Julia Mayerle; Henry Völzke; Norbert Hosten; Jens-Peter Kühn
Journal:  Eur Radiol       Date:  2014-08-15       Impact factor: 5.315

Review 9.  Identification and management of pancreas divisum.

Authors:  Aditya Gutta; Evan Fogel; Stuart Sherman
Journal:  Expert Rev Gastroenterol Hepatol       Date:  2019-11-08       Impact factor: 3.869

Review 10.  Pancreatic disease in children and adolescents.

Authors:  Christopher D Jolley
Journal:  Curr Gastroenterol Rep       Date:  2010-04
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