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International Immunology Advance Access originally published online on April 19, 2007
International Immunology 2007 19(5):621-626; doi:10.1093/intimm/dxm027
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© The Japanese Society for Immunology. 2007. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

The 14-bp deletion polymorphism in the HLA-G gene displays significant differences between ulcerative colitis and Crohn's disease and is associated with ileocecal resection in Crohn's disease

Jürgen Glas1,2, Helga-Paula Török1, Laurian Tonenchi1,2, Martin Wetzke1,2, Vanessa Beynon1,2, Molla Y. Teshome1,2, Sebastian Cotofana1, Uwe Schiemann3, Thomas Griga4, Wolfram Klein5, Joerg T. Epplen5, Christian Folwaczny1, Matthias Folwaczny2, Thomas Mussack1 and Elisabeth H. Weiss6

1 Chirurgische Klinik und Poliklinik–Innenstadt
2 Poliklinik für Zahnerhaltung und Parodontologie, Klinikum der Universität München, Munich, Germany
3 Klinik für Allgemeine Innere Medizin, Inselspital Bern, Bern, Switzerland
4 Medizinische Klinik–Innere Medizin, Knappschaftskrankenhaus Dortmund, Dortmund, Germany
5 Abteilung für Humangenetik, Ruhr-Universität Bochum, Bochum, Germany
6 Department Biologie II, Anthropologie und Humangenetik, Ludwig-Maximilians-Universität München, Munich, Germany

Correspondence to: J. Glas; E-mail: juergen.glas{at}med.uni-muenchen.de

HLA-G is a non-classical MHC class Ib molecule predominantly expressed in cytotrophoblasts and under pathological conditions also in chronically inflamed and in malignant tissues. Recently an increased expression of HLA-G was found in ulcerative colitis (UC), but not in Crohn's disease (CD). The HLA-G gene is located in IBD3, a linkage region for inflammatory bowel disease (IBD). A 14-bp deletion polymorphism (Del+/Del–) within exon 8 of the HLA-G gene might influence transcription activity and is therefore of potential functional relevance. To investigate whether the 14-bp deletion polymorphism is associated with IBD, 371 patients with CD, 257 patients with UC and 739 controls were genotyped. The heterozygous genotype (P = 0.031) and the Del+ phenotype (P = 0.038) were significantly increased, whereas the homozygous Del– phenotype (P = 0.038) was significantly decreased in UC when compared with CD. Thus, the 14-bp deletion polymorphism within the HLA-G gene displayed significant differences between UC and CD. Moreover, a significant increase of the Del+ allele (P = 0.002) and the Del+/Del+ genotype (P = 0.013) and a consecutive decrease of the Del–/– genotype (P = 0.024) were observed in those CD cases positive for ileocecal resection. Thus, a potential effect of the HLA-G gene in IBD may affect both UC and CD. Other polymorphisms linked to the 14-bp deletion polymorphism might also contribute to immunopathogenesis. As there are several partly functional polymorphisms within the promoter region potentially influencing HLA-G expression, further studies in IBD are necessary in the context of differential expression of HLA-G between UC and CD.

Keywords: Crohn's disease, HLA-G, inflammatory bowel disease, major histocompatibility complex, ulcerative colitis


Transmitting editor: A. Falus

Received 22 November 2006, accepted 22 February 2007.


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