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Vol. 66, No. 2, 2002
Issue release date: 2002
Section title: Original Paper: Inflammatory Bowel Disease
Digestion 2002;66:121–126
(DOI:10.1159/000065592)

Candidate Genes Colocalized to Linkage Regions in Inflammatory Bowel Disease

Martin K. · Radlmayr M. · Borchers R. · Heinzlmann M. · Folwaczny C.
aMedizinische Klinik und bMedizinische Poliklinik und Chirurgische Klinik der Universität, Standort Innenstadt, Ludwig-Maximilians Universität München, Deutschland

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Article / Publication Details

First-Page Preview
Abstract of Original Paper: Inflammatory Bowel Disease

Received: 1/30/2002
Accepted: 5/22/2002
Published online: 11/20/2002

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 3

ISSN: 0012-2823 (Print)
eISSN: 1421-9867 (Online)

For additional information: http://www.karger.com/DIG

Abstract

Background and Aims: The genes encoding for tumor necrosis factor-α (TNF-α), epidermal growth factor receptor (EGFR) and the vitamin D receptor (VDR) are colocalized to inflammatory bowel disease-associated linkage regions on chromosomes 6, 7 and 12. An association study of these gene polymorphisms with ulcerative colitis or Crohn’s disease and a stratification according to disease phenotypes was performed in order to identify gentically homogenous subgroups. Patients and Methods: 119 healthy, unrelated controls, 95 patients with Crohn’s disease and 93 patients with ulcerative colitis were genotyped for the (G to A) –308 TNF-α promoter polymorphism on chromosome 6, the codon 497 EGFR polymorphism on chromosome 7 and the TaqI polymorphism of the VDR gene on chromosome 12. After genotyping, patients were stratified according to the respective disease phenotype. Results: A disequilibrium in the distribution of the VDR genotypes was found in patients with ulcerative colitis compared to controls (p = 0.024). In fistulizing and fibrostenotic Crohn’s disease the ‘TT’ genotype was significantly reduced compared with other phenotypes (p = 0.006), whereas the ‘tt’ genotype was found more frequently (p = 0.04). The frequency of the WT allele of the EGFR gene was significantly higher in ulcerative colitis (p = 0.04) than in controls. Further significant differences, concerning the associations of the different polymorphisms and disease susceptibility or clinical phenotypes, were not observed. Conclusions: Regardless of the disease phenotype, the associations between the polymorphisms and inflammatory bowel disease investigated herein are modest, even after stratification for the disease phenotypes. Hence, these polymorphisms are unlikely to confer the reported linkage between inflammatory bowel disease and chromosomes 6, 7 and 12.


  

Author Contacts

PD Dr. C. Folwaczny
Medizinische Poliklinik und Chirurgische Klinik, Klinikum Innenstadt
Ludwig-Maximilians Universität, Nussbaumstrasse 20
D–80336 München (Germany), Tel. +49 89 5160 2625
Fax +49 89 5160 4187, E-Mail Christian.Folwaczny@medinn.med.uni-muenchen.de

  

Article Information

Received: Received: January 30, 2002
Accepted: May 21, 2002
Number of Figures : 0, Number of Tables : 3, Number of References : 51

  

Publication Details

Digestion (International Journal of Gastroenterology)
Founded as Archiv für Verdauungskrankheiten, 1895; continued as Gastroenterologia, 1939-1967

Vol. 66, No. 2, Year 2002 (Cover Date: 2002)

Journal Editor: R. Arnold, Marburg
ISSN: 0012–2823 (print), 1421–9867 (Online)

For additional information: http://www.karger.com/journals/dig


Article / Publication Details

First-Page Preview
Abstract of Original Paper: Inflammatory Bowel Disease

Received: 1/30/2002
Accepted: 5/22/2002
Published online: 11/20/2002

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 3

ISSN: 0012-2823 (Print)
eISSN: 1421-9867 (Online)

For additional information: http://www.karger.com/DIG


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