| MALDI-TOF mass spectrometry screening of cholelithiasis risk markers in the gene of HNF1alpha. | |
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MedLine Citation:
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PMID: 22569176 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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In recent years MALDI-TOF MS gained in importance for high-throughput DNA analysis. In the present study this technique was used for the pathogenetic analysis of gallstone disease. The intestinal apical sodium-dependent bile acid transporter (ASBT) shows a genetic association with gallstone disease. ASBT has 3 binding sites in its 5'UTR for hepatocyte nuclear factor 1alpha (HNF1alpha). We hypothesized that genetic alterations in the HNF1alpha gene could influence ASBT expression. The gene HNF1alpha was sequenced in 46 Stuttgart random samples, composed of 16 controls and 30 gallstone patients. Subsequently, two independent cohorts (Stuttgart: 67 gallstones carriers, 109 controls, Leutkirch: 112 gallstone carriers, 99 controls) were screened by MALDI-TOF MS. The subjects were further divided to gender and weight. 24 known polymorphisms and two novel SNPs in the 3'UTR of HNF1alpha were detected (c.*220G>A and c.*1151G>A). After gender-specific sub-division of the pooled cohorts, 4 SNPs result in significant differences between male gallstone carriers and male controls (Stuttgart/Leutkirch: rs2255531 OR=2.78; p=0.006, rs1169288 OR=2.13; p=0.032 rs7310409 OR=2.34; p=0.025 and rs1169294 OR=2.13; p=0.031). Two novel variants in the 3'UTR of HNF1alpha were detected and four SNPs of HNF1alpha show a significant association to cholelithiasis in male gallstone patients. This article is part of a Special Issue entitled: Genome regulation. |
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Authors:
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Dominique Richter; Simone Harsch; André Strohmeyer; Satoko Hirobe-Jahn; Silke Schimmel; Olga Renner; Oliver Müller; Elke Schäffeler; Wolfgang Kratzer; Matthias Schwab; Eduard F Stange |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-5-5 |
Journal Detail:
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Title: Journal of proteomics Volume: - ISSN: 1876-7737 ISO Abbreviation: - Publication Date: 2012 May |
Date Detail:
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Created Date: 2012-5-9 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101475056 Medline TA: J Proteomics Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012. Published by Elsevier B.V. |
Affiliation:
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Dr. Margarete Fischer-Bosch Institute for Clinical Pharmakology and University of Tübingen, Stuttgart, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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