Milena Di Leo1, Margherita Bianco2, Raffaella Alessia Zuppardo3, Mario Guslandi3, Federica Calabrese3, Alessandro Mannucci3, Tauro Maria Neri4, Pier Alberto Testoni3, Gioacchino Leandro5, Giulia Martina Cavestro3. 1. Gastroenterology and Gastrointestinal Endoscopy Unit, Division of Experimental Oncology, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy. Electronic address: dileo.milena1984@gmail.com. 2. Gastroenterology Unit 1, Gastroenterological Hospital 'S. De Bellis' IRCCS, Castellana Grotte, BA, Italy. 3. Gastroenterology and Gastrointestinal Endoscopy Unit, Division of Experimental Oncology, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy. 4. Unit of Medical Genetics, Laboratory of Molecular Genetics, Diagnostic Department, University Hospital of Parma, Parma, Italy. 5. Gastroenterology Unit 1, Gastroenterological Hospital 'S. De Bellis' IRCCS, Castellana Grotte, BA, Italy; Institute for Digestive and Liver Health, University College, London, UK.
Abstract
BACKGROUND: SPINK1 p.N34S gene variation is one of the endogenous factors which seem to be associated with chronic pancreatitis (CP). However, in literature there is no clear agreement regarding its contribution in different ethnicity and CP etiologies. AIM: To investigate the role of SPINK1 p.N34S gene variation in CP patients with European origin by means of meta-analysis. METHODS: Literature search was conducted and case-control studies evaluating Caucasian population, published between May 2007 and May 2015, were included. We also included Caucasian selected studies analyzed in previous meta-analysis. We carried out meta-analysis including all selected studies. After that, we performed two additional meta-analyses considering the incidence of SPINK1 p.N34S gene variation in alcoholic or in idiopathic CP patients vs control group. RESULTS: Twenty-five studies were included and the total number of subjects was 8800 (2981 cases and 5819 controls). The presence of p.N34S variation increased nine times the overall CP risk in population of European origin [OR 9.695 (CI 95% 7.931-11.851)]. Also, the contribution of SPINK1 in idiopathic pancreatitis [OR 13.640 (CI 95% 8.858-21.002)] was found to be higher than in alcoholic CP [5.283 (CI 95% 3.449-8.092)]. CONCLUSION: The association between SPINK1 p.N34S gene variation and CP is confirmed. Also, we confirmed that the idiopathic etiology needs a better definition by means of genetic analysis.
BACKGROUND:SPINK1p.N34S gene variation is one of the endogenous factors which seem to be associated with chronic pancreatitis (CP). However, in literature there is no clear agreement regarding its contribution in different ethnicity and CP etiologies. AIM: To investigate the role of SPINK1p.N34S gene variation in CP patients with European origin by means of meta-analysis. METHODS: Literature search was conducted and case-control studies evaluating Caucasian population, published between May 2007 and May 2015, were included. We also included Caucasian selected studies analyzed in previous meta-analysis. We carried out meta-analysis including all selected studies. After that, we performed two additional meta-analyses considering the incidence of SPINK1p.N34S gene variation in alcoholic or in idiopathic CPpatients vs control group. RESULTS: Twenty-five studies were included and the total number of subjects was 8800 (2981 cases and 5819 controls). The presence of p.N34S variation increased nine times the overall CP risk in population of European origin [OR 9.695 (CI 95% 7.931-11.851)]. Also, the contribution of SPINK1 in idiopathic pancreatitis [OR 13.640 (CI 95% 8.858-21.002)] was found to be higher than in alcoholic CP [5.283 (CI 95% 3.449-8.092)]. CONCLUSION: The association between SPINK1p.N34S gene variation and CP is confirmed. Also, we confirmed that the idiopathic etiology needs a better definition by means of genetic analysis.
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