Document Detail


Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol.
MedLine Citation:
PMID:  18680227     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIM: To test the hypothesis that calcium sensing receptor (CASR) polymorphisms are associated with chronic pancreatitis (CP), and to determine whether serine protease inhibitor Kazal 1type (SPINK1) N34S or alcohol are necessary co-factors in its etiology. METHODS: Initially, 115 subjects with pancreatitis and 66 controls were evaluated, of whom 57 patients and 21 controls were predetermined to carry the high-risk SPINK1 N34S polymorphism. We sequenced CASR gene exons 2, 3, 4, 5 and 7, areas containing the majority of reported polymorphisms and novel mutations. Based on the initial results, we added 223 patients and 239 controls to analyze three common nonsynonymous single nucleotide polymorphisms (SNPs) in exon 7 (A986S, R990G, and Q1011E). RESULTS: The CASR exon 7 R990G polymorphism was significantly associated with CP (OR, 2.01; 95% CI, 1.12-3.59; P = 0.015). The association between CASR R990G and CP was stronger in subjects who reported moderate or heavy alcohol consumption (OR, 3.12; 95% CI, 1.14-9.13; P = 0.018). There was no association between the various CASR genotypes and SPINK1 N34S in pancreatitis. None of the novel CASR polymorphisms reported from Germany and India was detected. CONCLUSION: Our United States-based study confirmed an association of CASR and CP and for the first time demonstrated that CASR R990G is a significant risk factor for CP. We also conclude that the risk of CP with CASR R990G is increased in subjects with moderate to heavy alcohol consumption.
Authors:
Venkata Muddana; Janette Lamb; Julia-B Greer; Beth Elinoff; Robert H Hawes; Peter B Cotton; Michelle A Anderson; Randall E Brand; Adam Slivka; David C Whitcomb
Related Documents :
22802427 - Moderate alcohol consumption may protect against overt autoimmune hypothyroidism - a po...
18603357 - Interaction between interleukin-1beta -31t/c gene polymorphism and drinking and smoking...
22340227 - Effect of elevated total cholesterol level and hypertension on the risk of fatal cardio...
22320427 - Intraspecific trait cospecialization of constitutive and inducible morphological defenc...
15527877 - Occupations and parkinson's disease: a multi-center case-control study in south korea.
23522717 - Abdominal aortic aneurysms in women.
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  World journal of gastroenterology : WJG     Volume:  14     ISSN:  1007-9327     ISO Abbreviation:  World J. Gastroenterol.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-08-05     Completed Date:  2008-12-18     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  100883448     Medline TA:  World J Gastroenterol     Country:  China    
Other Details:
Languages:  eng     Pagination:  4486-91     Citation Subset:  IM    
Affiliation:
Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh PA 15213, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Alcohol Drinking / adverse effects*
Carrier Proteins / genetics*
Case-Control Studies
Exons / genetics
Female
Genetic Predisposition to Disease / genetics
Humans
Male
Middle Aged
Mutation / genetics
Pancreatitis, Chronic / ethnology,  genetics*
Polymorphism, Single Nucleotide / genetics*
Receptors, Calcium-Sensing / genetics*
Risk Factors
United States
Grant Support
ID/Acronym/Agency:
R01 DK061451/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/CASR protein, human; 0/Carrier Proteins; 0/Receptors, Calcium-Sensing; 0/SPINK1 protein, human
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Comparison of esophageal capsule endoscopy and esophagogastroduodenoscopy for diagnosis of esophagea...
Next Document:  Folic acid supplementation inhibits recurrence of colorectal adenomas: a randomized chemoprevention ...