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HLA-related genetic risk for coeliac disease
  1. Mathieu MB Bourgey
  1. INSERM U535, Université Paris XI, Villejuif, France
    1. Giuseppe GC Calcagno
    1. SPeS Departiment, University of Molise Campobasso, and of Biochemistry and Medical Biotechnolo, Italy
      1. Nadia NT Tinto
      1. Department of Biochemistry and Medical Biotechnology, University of Naples 'Federico II', Italy
        1. Daniela DG Gennarelli
        1. Department of Biochemistry and Medical Biotechnology, University of Naples 'Federico II', Italy
          1. Patricia PMG Margaritte-Jeannin
          1. INSERM U535, Université Paris XI, Villejuif, France
            1. Luigi LG Greco (ydongre{at}unina.it)
            1. Department of Pediatrics, University of Naples 'Federico II', Naples, Italy
              1. Maria Giovanna MGL Limongelli
              1. Department of Pediatrics, University of Naples 'Federico II', Naples, Italy
                1. Oscar OE Esposito
                1. Department of Pediatrics, University of Naples 'Federico II', Naples, Italy
                  1. Caterina CM Marano
                  1. Department of Pediatrics, University of Naples 'Federico II', Naples, Italy
                    1. Riccardo RT Troncone
                    1. Department of Pediatrics, University of Naples 'Federico II', Naples, Italy
                      1. Antonella AS Spampanato
                      1. Department of Biochemistry and Medical Biotechnology, University of Naples 'Federico II', Italy
                        1. Françoise FCD Clerget-Darpoux
                        1. INSERM U535, Université Paris XI, Villejuif, France
                          1. Lucia Sacchetti
                          1. Department of Biochemistry and Medical Biotechnology, University of Naples 'Federico II', Italy

                            Abstract

                            Background: Several studies have shown an elevated prevalence of coeliac disease (CD) in sibs of coeliac patients (risk 8-12%).

                            Aim and method: This study seeks to evaluate the risk that sibs of children with CD will also develop CD. This cohort of 188 Italian families was composed of probands with CD, at least one sib, and both parents. CD status was determined and HLA-DQ genotyping performed for all family members. The study also used a data set of Italian triads (127 probands and both their parents) also genotyped for HLA-DQ.

                            Results: The overall risk that a sib of a CD patient will develop the disease is estimated at 10% in this sample. The risk estimate ranges from 0,1 to 29% when HLA-DQ information of the proband, parents and sib is considered. We found a negligible risk (lower than 1%) for 40% of the sibs of probands, a risk greater than 1% but less than 10% for 30%, and finally a high or very high risk (above 25%) in one third of families.

                            Conclusion: These results make it possible to provide more accurate information to parents with child with CD about the real risk for another child. An antenatal estimate of the order of risk of CD is now possible. Specific follow-up can thus be offered for babies at high risk.

                            • Coeliac Disease
                            • DQ-typing
                            • family screening
                            • first degree relatives
                            • recurrence risk

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