title: The genetic predisposition and its impact on the diabetes mellitus development in patients with alcoholic chronic pancreatitis.
abstract: The most common cause of chronic pancreatitis (CP) is alcohol abuse. The aim of the present study was to identify patients with genetic predisposition to CP abusing alcohol. The question posed was whether CP manifests at a younger age and diabetes mellitus develops earlier in individuals with genetic predisposition. The study encompassed 79 patients with alcoholic chronic pancreatitis (ACP) and control group (100 persons). The following mutations were determined: R122H and N29I of PRSS1 and N34S of SPINK1 as well as E366K and E288V of SERPINA 1. No R122H and N291 mutations were observed in the group of ACP patients and in controls. Moreover, there was no E288V mutation. In 79 ACP patients, six SPINK 1 (N34S/wt) mutations were observed. In the control group, one heterozygous SPINK 1N34S gene mutation was found (P = 0.0238). Two PiZ mutations were identified in patients with ACP and one analogical mutation in controls. Amongst patients with ACP as well as SPINK1 and PiZ mutations, the onset of disease was observed earlier and developed earlier. The prevalence of SPINK1 mutation is higher in patients with ACP than in healthy populations. This mutation together with the effects of alcohol accelerates the development of ACP and of diabetes mellitus.
authors.affiliation: Department of Gastroenterology with Endoscopic Units, Medical University, Jaczewski Street 8, 20-954 Lublin, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Madro
authors.affiliation: Department of Forensic Medicine, Medical University, Ceramiczna Street 1, 20-150 Lublin, Poland.
authors.forename: Marzanna
authors.initials: M
authors.lastname: Ciesielka
authors.affiliation: Department of Gastroenterology with Endoscopic Units, Medical University, Jaczewski Street 8, 20-954 Lublin, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Celinski
authors.affiliation: Department of Gastroenterology with Endoscopic Units, Medical University, Jaczewski Street 8, 20-954 Lublin, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Slomka
authors.affiliation: Department of Gastroenterology with Endoscopic Units, Medical University, Jaczewski Street 8, 20-954 Lublin, Poland.
authors.forename: Grazyna
authors.initials: G
authors.lastname: Czechowska
authors.affiliation: Department of Medical Chemistry, Medical University, Chodźki Street 4a, 20-093 Lublin, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Kurzepa
authors.affiliation: Department of Gastroenterology with Endoscopic Units, Medical University, Jaczewski Street 8, 20-954 Lublin, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Kaszelan-Szczerbinska
authors.affiliation: Department of Forensic Medicine, Medical University, Ceramiczna Street 1, 20-150 Lublin, Poland.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Buszewicz
authors.affiliation: Department of Forensic Medicine, Medical University, Ceramiczna Street 1, 20-150 Lublin, Poland.
authors.forename: Roman
authors.initials: R
authors.lastname: Madro
references.citation: Gastroenterology. 1952 May;21(1):54-63
references.pmid: 14926813
references.citation: Gut. 1991 Aug;32(8):945-8
references.pmid: 1885078
references.citation: Pancreas. 2007 May;34(4):390-8
references.pmid: 17446836
references.citation: Orphanet J Rare Dis. 2007 Jan 04;2:1
references.pmid: 17204147
references.citation: Dig Dis Sci. 2003 Jun;48(6):1110-5
references.pmid: 12822871
references.citation: Int J Environ Res Public Health. 2011 Jul;8(7):2747-57
references.pmid: 21845156
references.citation: Pancreas. 1990 Jul;5(4):474-8
references.pmid: 2381901
references.citation: Pancreatology. 2009;9(3):287-92
references.pmid: 19407484
references.citation: J Med Genet. 2000 Jan;37(1):67-9
references.pmid: 10691414
references.citation: PLoS One. 2008 Apr 16;3(4):e2003
references.pmid: 18414673
references.citation: Pancreatology. 2005;5(4-5):354-60
references.pmid: 15980664
references.citation: Best Pract Res Clin Gastroenterol. 2008;22(1):115-30
references.pmid: 18206817
references.citation: Scand J Gastroenterol. 2002 Mar;37(3):356-9
references.pmid: 11916200
references.citation: Clin Gastroenterol Hepatol. 2004 Mar;2(3):252-61
references.pmid: 15017610
references.citation: Respir Med. 1998 Mar;92(3):367-77
references.pmid: 9692092
references.citation: Front Physiol. 2012 May 07;3:126
references.pmid: 22586407
references.citation: Nat Genet. 1996 Oct;14(2):141-5
references.pmid: 8841182
references.citation: Scand J Gastroenterol. 2002 Mar;37(3):360-5
references.pmid: 11916201
references.citation: Dig Liver Dis. 2013 Jan;45(1):38-42
references.pmid: 23017645
references.citation: JAMA. 2001 Jun 6;285(21):2716-7
references.pmid: 11386926
references.citation: Gut. 2013 Apr;62(4):582-92
references.pmid: 22427236
references.citation: Curr Opin Gastroenterol. 2012 Sep;28(5):501-6
references.pmid: 22885947
references.citation: Pancreatology. 2009;9(5):644-51
references.pmid: 19657220
references.citation: Gut. 2010 Jun;59(6):800-7
references.pmid: 20551465
references.citation: Nat Genet. 2008 Jan;40(1):78-82
references.pmid: 18059268
references.citation: Eur J Hum Genet. 2003 Sep;11(9):687-92
references.pmid: 12939655
references.citation: Dig Dis Sci. 2011 Mar;56(3):894-901
references.pmid: 20676769
references.citation: Gut. 2002 May;50(5):675-81
references.pmid: 11950815
references.citation: Nat Rev Gastroenterol Hepatol. 2010 Mar;7(3):131-45
references.pmid: 20125091
references.citation: Hum Mutat. 2006 Aug;27(8):721-30
references.pmid: 16791840