Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis
نویسندگان
چکیده
منابع مشابه
Tumour necrosis factor microsatellite haplotypes are associated with chronic pancreatitis.
CONTEXT Alcohol is the major aetiological agent for both chronic pancreatitis and alcoholic liver disease. However, as only a minority of alcoholics develop either chronic pancreatitis or alcoholic liver disease, there are clearly genetic or environmental cofactors that determine individual susceptibility to these diseases. OBJECTIVE To determine whether polymorphisms of the TNF gene may acco...
متن کاملCFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
OBJECTIVE In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes. DESIGN 660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) b...
متن کاملAnalysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility.
OBJECTIVES The CARD15/NOD2 gene product plays an important role in host response to bacterial lipopolysaccharides and bacterial muramyl dipeptide via activation of NF-kappaB in monocytes. Mutations in CARD15 are associated with Crohn's disease (CD), a chronic inflammatory bowel disease. In this study we sought to determine whether CD-associated mutations or any common variants of this gene migh...
متن کاملTwo cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation
Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease inhibitor, Kazal type 1 (SPINK1), cationic trypsinogen (PRSS1), and cystic fibrosis-transmembrane conduct...
متن کاملTwo SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis
The SPINK1 protein is a potent antiprotease that can inactivate any intrapancreatic trypsin activity that would otherwise induce autodigestion of the pancreas. SPINK1 mutations have been recognized to be associated with chronic pancreatitis in patients without a family history of pancreatitis. We here describe the case of a 24-year-old woman referred to our service for recurrent abdominal pain ...
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ژورنال
عنوان ژورنال: Gut
سال: 2008
ISSN: 0017-5749
DOI: 10.1136/gut.2008.164947