Genome Search in Celiac Disease

• Published in: American journal of human genetics Vol. 62; no. 3; pp. 669 - 675
• Main Authors: Greco, Luigi, Corazza, Gino, Babron, Marie-Claude, Clot, Fabienne, Fulchignoni-Lataud, Marie-Claude, Percopo, Selvaggia, Zavattari, Patrizia, Bouguerra, Faouzi, Dib, Colette, Tosi, Roberto, Troncone, Riccardo, Ventura, Alessandro, Mantavoni, Wilma, Magazzù, Giuseppe, Gatti, Rosanna, Lazzari, Rosanna, Giunta, Annamaria, Perri, Francesco, Iacono, Giuseppe, Cardi, Ettore, de Virgiliis, Stefano, Cataldo, Francesco, De Angelis, Gianluigi, Musumeci, Salvatore, Ferrari, Roberto, Balli, Fiorella, Bardella, Maria-Teresa, Volta, Umberto, Catassi, Carlo, Torre, Giuliano, Eliaou, Jean-François, Serre, Jean-Louis, Clerget-Darpoux, Françoise
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.03.1998; University of Chicago Press
• Subjects: Biological and medical sciences; Celiac disease; Celiac Disease - genetics; Gastroenterology. Liver. Pancreas. Abdomen; Genetic Linkage; Genetic Testing; Genome screening; Genome, Human; Genotype; HLA; Humans; Linkage; Medical sciences; Other diseases. Semiology; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Celiac disease; Linkage; HLA; Genome screening; Genetic mapping; Human; Immunopathology; Family study; Clinical form; Coeliac disease; Chromosome C11; Genetic determinism; Phenotype; Intestinal malabsorption; Risk factor; Digestive diseases; Intestinal disease
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/301754

Celiac disease (CD), a malabsorption disorder of the small intestine, results from ingestion of gluten. The HLA risk factors involved in CD are well known but do not explain the entire genetic susceptibility. To determine the localization of other genetic risk factors, a systematic screening of the genome has been undertaken. The typing information of 281 markers on 110 affected sib pairs and their parents was used to test linkage. Systematic linkage analysis was first performed on 39 pairs in which both sibs had a symptomatic form of CD. Replication of the regions of interest was then carried out on 71 pairs in which one sib had a symptomatic form and the other a silent form of CD. In addition to the HLA loci, our study suggests that a risk factor in 5qter is involved in both forms of CD (symptomatic and silent). Furthermore, a factor on 11qter possibly differentiates the two forms. In contrast, none of the regions recently published was confirmed by the present screening.