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Myosin ixb gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association
  1. Lotta L.E. Koskinen (lotta.koskinen{at}helsinki.fi)
  1. University of Helsinki, Finland
    1. Ilma R. Korponay-Szabo
    1. Heim Pal Children’s Hospital, Budapest, and University of Debrecen, Hungary
      1. Keijo Viiri
      1. University of Tampere Medical School and Tampere University Hospital, Finland
        1. Kati Juuti-Uusitalo
        1. University of Tampere Medical School and Tampere University Hospital, Finland
          1. Katri Kaukinen
          1. University of Tampere Medical School and Tampere University Hospital, Finland
            1. Katri Lindfors
            1. University of Tampere Medical School and Tampere University Hospital, Finland
              1. Kirsi Mustalahti
              1. University of Tampere Medical School and Tampere University Hospital, Finland
                1. Kalle Kurppa
                1. University of Tampere Medical School and Tampere University Hospital, Finland
                  1. Róza Ádány
                  1. University of Debrecen, Hungary
                    1. Zsuzsa Pocsai
                    1. University of Debrecen, Hungary
                      1. György Széles
                      1. University of Debrecen, Hungary
                        1. Elisabet Einarsdottir
                        1. University of Helsinki, Finland
                          1. Cisca Wijmenga
                          1. University Medical Center Utrecht, and University Medical Center Groningen, Netherlands
                            1. Markku Mäki
                            1. University of Tampere Medical School and Tampere University Hospital, Finland
                              1. Jukka Partanen
                              1. Finnish Red Cross Blood Service, Finland
                                1. Juha Kere
                                1. University of Helsinki, and Karolinska Institutet, Sweden
                                  1. Päivi Saavalainen (paivi.saavalainen{at}helsinki.fi)
                                  1. University of Helsinki, Finland

                                    Abstract

                                    Introduction: Coeliac disease is caused by dietary gluten, which triggers chronic inflammation of the small intestine in genetically predisposed individuals. In one-quarter of the patients the disease manifests in the skin as dermatitis herpetiformis. Recently, a novel candidate gene, myosin IXB on chromosome 19p13, was shown to be associated with coeliac disease in the Dutch and Spanish populations. The same gene has previously been associated with inflammatory bowel disease, systemic lupus erythematosus and rheumatoid arthritis risk, making myosin IXB a potential shared risk factor in these inflammatory disorders. Methods: In this study, previously reported myosin IXB variants were tested for genetic linkage and association with coeliac disease in 495 Hungarian and Finnish families and in an additional 270 patients and controls. Results and discussion: The results show significant linkage (LOD 3.76, P=0.00002) to 19p13 which supports the presence of a genuine risk factor for coeliac disease in this locus. Myosin IXB variants were not associated with coeliac disease in this study; however, weak evidence of association with dermatitis herpetiformis was found. The association could not explain the strong linkage seen in both phenotypes, indicating that the role of other neighbouring genes in the region cannot be excluded. Therefore, more detailed genetic and functional studies are required to characterise the role of the myosin IXB gene in both coeliac disease and dermatitis herpetiformis.

                                    • MYO9B
                                    • celiac disease
                                    • coeliac disease
                                    • dermatitis herpetiformis
                                    • myosin IXB

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