Background: 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 conclusion: The results show significant linkage (logarithm of odds (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.
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Funding: This work and the study groups have been funded from the EU Commission by a Marie Curie Excellence Grant (FP6 contract MEXT-CT-2005-025270), the Academy of Finland, Hungarian Scientific Research Fund (contract OTKA 61868), the University of Helsinki Funds, Research Fund of Tampere University Hospital, the Competitive Research Funding of the Pirkanmaa Hospital District, the Yrjö Jahnsson Foundation, the Foundation of Pediatric Research, Sigrid Juselius Foundation, Finnish Cultural Foundation, Maud Kuistila Memorial Foundation, Finnish Society for Gastroenterological Research, and Finnish Celiac Disease Society.
Competing interests: None.
Ethics approval: The collection of the patient and control materials were approved by the ethical committees of the Tampere University Hospital, Heim Pal Children’s Hospital, Budapest and the University of Debrecen.
Patient consent: All enrolled participants provided written informed consent.