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Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients

Genes & Immunity volume 13, pages 474–480 (2012)Cite this article

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Abstract

Some genetic loci may affect susceptibility to multiple immune system-related diseases. In the current study, we investigated whether the known susceptibility loci for celiac disease (CelD) also associate with Crohn's disease (CD) and/or ulcerative colitis (UC), the two main forms of inflammatory bowel disease (IBD), in Finnish patients. A total of 45 genetic markers were genotyped in a Finnish data set comprising 699 IBD patients and 2482 controls. Single-marker association with IBD and its subphenotypes was tested. A meta-analysis with a Swedish UC data set was also performed. A total of 12 single-nucleotide polymorphisms associated with CD and/or UC (P<0.05). In the subphenotype analysis, rs6974491-ELMO1 (P=0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P=5.44 × 10−5, OR: 2.59) associated with pediatric UC and CD, respectively. In the meta-analysis, rs4819388-ICOSLG (P=0.00042, OR: 0.79) associated with UC. In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10−5, OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. Multiple CelD risk loci also confer susceptibility for CD and/or UC in the Finnish and Swedish populations. Certain genetic risk variants may furthermore predispose an individual for developing a particular disease phenotype.

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Acknowledgements

We thank all the study subjects for participating in the study. This work and the study groups have been funded by grants from the Academy of Finland, Biocentrum Helsinki, the Special State Subsidy for Health Sciences (EVO) and the Research Program of Molecular Medicine at University of Helsinki. Dr Salomaa was supported by the Academy of Finland (grant numbers 129322 and 139635). Analysis of the Swedish samples was supported by the Swedish Research Council, the Bengt Ihre's Foundation and the Örebro University Hospital Research foundation. We also thank Dr Dario Greco for statistical advice.

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Author notes

  1. P Saavalainen and E Einarsdottir: These authors contributed equally to this work.

  2. L Peltonen: Deceased.

Authors and Affiliations

  1. Research Program for Molecular Medicine, University of Helsinki, Helsinki, Finland

    A S Parmar, M Lappalainen, K Kontula, P Saavalainen & E Einarsdottir

  2. Department of Medical Genetics, Haartman Institute, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

    A S Parmar, P Saavalainen & E Einarsdottir

  3. Department of Medicine, Helsinki University Hospital, Helsinki, Finland

    M Lappalainen & K Kontula

  4. Department of Gastroenterology, Helsinki University Hospital, Helsinki, Finland

    P Paavola-Sakki, M Färkkilä & U Turunen

  5. Department of Surgery, Helsinki University Hospital, Helsinki, Finland

    L Halme

  6. National Institute for Health and Welfare, Helsinki, Finland

    A Aromaa & V Salomaa

  7. Institute for Molecular Medicine Finland, Helsinki, Finland

    L Peltonen

  8. Wellcome Trust Sanger Institute, Cambridge, UK

    L Peltonen

  9. Department of Medicine, School of Health and Medical Sciences, Örebro University, Örebro, Sweden

    J Halfvarson

  10. Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden

    L Törkvist

  11. Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden

    M D'Amato

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  1. A S Parmar
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Correspondence to E Einarsdottir.

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Parmar, A., Lappalainen, M., Paavola-Sakki, P. et al. Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients. Genes Immun 13, 474–480 (2012). https://doi.org/10.1038/gene.2012.21

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  • DOI: https://doi.org/10.1038/gene.2012.21

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