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Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn’s disease
  1. H-P Török1,*,
  2. J Glas2,*,
  3. L Tonenchi2,
  4. P Lohse3,
  5. B Müller-Myhsok4,
  6. O Limbersky5,
  7. C Neugebauer5,
  8. F Schnitzler6,
  9. J Seiderer6,
  10. C Tillack6,
  11. S Brand6,
  12. G Brünnler7,
  13. P Jagiello8,
  14. J T Epplen8,
  15. T Griga9,
  16. W Klein8,
  17. U Schiemann10,
  18. M Folwaczny5,
  19. T Ochsenkühn6,*,
  20. C Folwaczny1,*
  1. 1Chirurgische Klinik und Poliklinik-Standort Innenstadt, and Medizinische Poliklinik-Standort Innenstadt, Ludwig-Maximilians-Universität München, München, Germany
  2. 2Medizinische Poliklinik-Standort Innenstadt, and Klinik und Poliklinik für Zahnerhaltung und Parodontologie, Ludwig-Maximilians-Universität München, München, Germany
  3. 3Institut für Klinische Chemie-Standort Grosshadern, Ludwig-Maximilians-Universität München, München, Germany
  4. 4Max-Planck-Institut für Psychiatrie, München, Germany
  5. 5Klinik und Poliklinik für Zahnerhaltung und Parodontologie, Ludwig-Maximilians-Universität München, München, Germany
  6. 6Medizinische Klinik und Poliklinik II-Standort Grosshadern, Ludwig-Maximilians-Universität München, München, Germany
  7. 7Labor für Immungenetik, Kinderklinik und Kinderpoliklinik, Ludwig-Maximilians Universität München, München, Germany
  8. 8Abteilung für Humangenetik, Ruhr-Universität Bochum, Germany
  9. 9Medizinische Klinik I, Berufsgenossenschaftliche Kliniken Bergmannsheil-Universitätsklinik, Bochum, Germany
  10. 10Klinik für Allgemeine Innere Medizin, Inselspital Bern, Bern, Switzerland
  1. Correspondence to:
    Dr C Folwaczny
    Medizinische Poliklinik-Innenstadt, Ludwig-Maximilians-Universität München, Nußbaumstr 20, D-80336 München, Germany;


Background and aims: Recent data suggest identification of causal genetic variants for inflammatory bowel disease in the DLG5 gene and in the organic cation transporter (OCTN) cluster, both situated in previously described linkage regions.

Patients and methods: The polymorphisms in DLG5 (113 G→A, 4136 C→A, and DLG5_e26), SLC22A4 (1672 C→T), and SLC22A5 (−207 G→C) were assessed in 625 patients with Crohn’s disease (CD), 363 patients with ulcerative colitis (UC), and 1012 healthy controls. Association with disease susceptibility, clinical phenotypes, and possible genetic interactions of these polymorphisms with disease associated CARD15/NOD2 mutations was analysed.

Results: No significant association of DLG5 polymorphisms with CD or UC was observed. Homozygosity for the OCTN-TC haplotype was associated with an increased CD risk (OR = 1.65), which was even greater in the presence of CARD15 mutations. Genotype-phenotype analysis revealed that this association was particularly strong in patients with colonic disease. The TC haplotype was associated with non-fistulising non-fibrostenotic disease, an earlier age of disease onset, and reduced need for surgery.

Conclusion: Our observations argue against a role of DLG5 polymorphisms in the susceptibility for inflammatory bowel disease, whereas the OCTN polymorphisms are associated with CD. However, due to the comparable weak association observed herein, extended linkage disequilibrium analyses of these variants with the IBD5 haplotype tagged single nucleotide polymorphims might be advisable before definitive conclusions about their causative role in CD can be drawn.

  • IBD, inflammatory bowel disease
  • CD, Crohn’s disease
  • UC, ulcerative colitis
  • SNP, single nucleotide polymorphism
  • OCTN, carnitine/organic cation transporter
  • OR, odds ratio
  • Crohn’s disease
  • phenotypes
  • polymorphisms
  • IBD5
  • DLG5
  • OCTNs

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  • * H-P Török and J Glas contributed equally to this work.

  • T Ochsenkühn and C Folwaczny share senior authorship.

  • This work contains parts of the doctoral thesis of C Neugebauer

  • Conflict of interest: None declared.

  • Published online first 14 June 2005

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