Preliminary report on the Mount Sinai Hospital Inflammatory Bowel Disease Genetics Project.
Meeting of the American Society of Colon and Rectal Surgeons - Tripartite Meeting. Seattle, Washington (USA) ; London (GBR), 1996/06/09 - 1996/07/08.
Although the etiology of inflammatory bowel disease (IBD) is unknown, there is increasing evidence that genetic predisposition plays a major etiologic role.
To provide the framework for gene identification using a positional cloning approach, ascertainment of families with multiple affected members and careful documentation of pedigrees are essential.
To report the initial findings of the IBD Genetics Project of the Mount Sinai Hospital IBD Research Unit.
All records of patients with ulcerative colitis and Crohn's disease followed at the Mount Sinai Hospital IBD Unit were reviewed.
A questionnaire was sent to all patients to ascertain those with a family history of IBD.
Patients with a presumed family his tory were contacted by a research assistant, and after confirmation of diagnosis, relevant clinical information, pedigrees, and consent to contact family members were obtained.
Blood for DNA and cell line preparation were collected from affected and nonaffected family members.
Of 2,504 patients registered in the IBD database, 231 (9.2 percent) were found to have an affected family member : 96 of 964 (10 percent) with Crohn's disease (CD) and 135 of 1,540 (8.8 percent) with ulcerative colitis (UC).
A mean of 2.4 family members were affected.
In families in which the proband had CD, 82.3 percent had only two affected family members, 78.1 percent had only family members affected with CD, and 82. (...)
Mots-clés Pascal : Rectocolite ulcérohémorragique, Entérite Crohn, Facteur risque, Déterminisme génétique, Evaluation, Incidence, Parent, Etude statistique, Homme, Appareil digestif pathologie, Intestin pathologie, Maladie inflammatoire, Génétique
Mots-clés Pascal anglais : Ulcerative colitis, Crohn disease, Risk factor, Genetic inheritance, Evaluation, Incidence, Parent, Statistical study, Human, Digestive diseases, Intestinal disease, Inflammatory disease, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0311173
Code Inist : 002B13B03. Création : 15/07/1997.