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Cystic fibrosis gene mutations and gastrointestinal diseases
Clinical Epidemiology Unit, Department of Medicine, Karolinska Hospital, Stockholm, Sweden; Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
Clinical Epidemiology Unit, Department of Medicine, Karolinska Hospital, Stockholm, Sweden.
Clinical Epidemiology Unit, Department of Medicine, Karolinska Hospital, Stockholm, Sweden.
Department, Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
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2010 (English)In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, Vol. 9, no 4, p. 288-291Article in journal (Refereed) Published
Abstract [en]

Background: This study examined if CF mutation heterozygosity is associated with diseases of gastrointestinal epithelial barrier function. Design and methods: Swedish registers identified 865 patients with a diagnosis of CF between 1968 and 2003 and matched with 8101 individuals without CF. Gastrointestinal disease risk was examined among 1534 biological parents and 1396 siblings of CF patients, compared with 15,526 parents and 15,542 siblings of individuals without CF. Results: First-degree relatives of CF patients were not at lower risk of the gastrointestinal diseases, in contrast with a raised risk among CF patients. Conclusion: Heterozygosity for CF gene mutations does not protect against gastrointestinal diseases where impaired barrier function may be relevant. (C) 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Place, publisher, year, edition, pages
2010. Vol. 9, no 4, p. 288-291
Keywords [en]
Cystic fibrosis, Gene mutation, Gastrointestinal diseases, Barrier function
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-25549DOI: 10.1016/j.jcf.2010.03.010ISI: 000280009500011OAI: oai:DiVA.org:oru-25549DiVA, id: diva2:548071
Available from: 2012-08-29 Created: 2012-08-29 Last updated: 2018-07-22Bibliographically approved

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Johannesson, MarieMontgomery, Scott M.

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School of Health and Medical Sciences, Örebro University, Sweden
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