Genome Search in Celiac Disease

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...

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Bibliographic Details
Published in:American journal of human genetics 1998-03, Vol.62 (3), p.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: Article
Language:English
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
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/301754