1. HLA-related genetic risk for coeliac disease
- Author
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Limongelli, Mg, Bourgey, M, Calcagno, G, Tinto, N, Gennarelli, D, Margaritte-Jeannin, P, Esposito, O, Marano, C, Troncone, R, Spampanato, A, Natale, C, Clerget-Darpoux, F, Sacchetti, L, Greco, L, Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), SPeS Dipartiment, Università degli studi del Molise, Department of Biochemistry and Medical Biotechnology, Università degli studi di Napoli Federico II, Department of Pediatrics and European Laboratory for the Investigation of Food-Induced Diseases, FRM (Fondation de la Recherche Médicale ), ELFID (European Laboratory for the Investigation of Food-Induced Diseases), CEINGE, Regione Campania, • MIUR (Italian Ministero dell'Istruzione, dell'Università e della Ricerca), Vaillant, Christine, Università degli Studi del Molise = University of Molise (UNIMOL), University of Naples Federico II = Università degli studi di Napoli Federico II, Limongelli, Mg, Bourgey, M, Calcagno, G, Tinto, N, Gennarelli, D, MARGARITTE-JEANNIN, P, Esposito, O, Marano, C, Troncone, R, Spampanato, A, CLERGET- DARPOUX, F, Sacchetti, L, and Greco, L.
- Subjects
Male ,Parents ,Proband ,Pediatrics ,medicine.medical_specialty ,Genotype ,Genetic counseling ,Genetic Counseling ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Coeliac Disease ,Risk Assessment ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,HLA-DQ Antigens ,Humans ,Medicine ,Genetic Predisposition to Disease ,First-degree relatives ,Risk factor ,030304 developmental biology ,Family Health ,0303 health sciences ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,business.industry ,Siblings ,DQ-typing ,Infant, Newborn ,Gastroenterology ,3. Good health ,HLA ,Celiac Disease ,Risk Estimate ,family screening ,Haplotypes ,Cohort ,Immunology ,Female ,030211 gastroenterology & hepatology ,first degree relatives ,Risk assessment ,business ,Cohort study ,recurrence risk - 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.
- Published
- 2007
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