A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland.

HPB : the Official Journal of the International Hepato Pancreato Biliary Association
Hazel M Ní ChonchubhairKevin C Conlon

Abstract

Individual genetic architecture is considered central to susceptibility and progression of disease in chronic pancreatitis. The study aimed to evaluate the presence of common pancreatic gene mutations in a defined cohort of idiopathic and alcohol-induced chronic pancreatitis patients in Ireland. The study comprised patients with idiopathic and alcohol-induced chronic pancreatitis and historic controls. Variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, cationic trypsinogen (PRSS1) gene and serine protease inhibitor kazal type-1 (SPINK1) gene, were assessed by Taqman© genotyping assay. Of n = 126 patients and n = 167 controls, mutations were detected in 23 (20%) and in 10 (6%) respectively (P < 0.001). The majority of mutations found were in the SPINK1 gene variant N34S (13%) which increased disease risk almost six-fold (OR 5.9). Neither CFTR severe mutation (F508del) (P = 0.649) nor mild variant (R117H) (P = 0.327) were over-represented amongst patients compared to control subjects. PRSS1 variants were not detected in either patient or control subjects. There was a significant prevalence of chronic pancreatitis-associated gene mutations in this well-phenotyped cohort. In patients with alcohol-relat...Continue Reading

References

Jun 1, 1995·The New England Journal of Medicine·M L SteerS Freedman
Sep 3, 1998·The New England Journal of Medicine·N SharerJ Braganza
Sep 3, 1998·The New England Journal of Medicine·J A CohnP S Jowell
Feb 15, 2000·The British Journal of Surgery·J E CreightonR M Charnley
Jun 29, 2000·The Medical Clinics of North America·D C Whitcomb
Feb 1, 2003·Canadian Journal of Gastroenterology = Journal Canadien De Gastroenterologie·Jonathan A Cohn
Sep 1, 2005·Human Mutation·Jonathan A CohnSteve S Sommer
Apr 30, 2008·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Philip M Farrell
May 13, 2010·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Anne-Laure PelletierPhilippe Lévy
Mar 15, 2011·Lancet·Joan M BraganzaMichael J McMahon
Aug 17, 2011·Current Opinion in Gastroenterology·Jessica LaRusch, David C Whitcomb
Apr 30, 2013·Gastroenterology·David C Whitcomb
Apr 1, 1998·Addiction Biology·M V ApteJ S Wilson
Feb 10, 2016·Reviews of Physiology, Biochemistry and Pharmacology·Péter HegyiJózsef Maléth
Mar 2, 2017·Therapeutic Advances in Gastroenterology·Zachary Zator, David C Whitcomb
May 27, 2017·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Milena Di LeoGiulia Martina Cavestro
Jun 4, 2018·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Anna Evans PhillipsDhiraj Yadav

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