Cystic Fibrosis Research Today is a free monthly online journal that collates and summarizes the latest research about Cystic Fibrosis, including details on symptoms, genetics, treatment, information.

Modifier genes in cystic fibrosis.

Davies JC, Griesenbach U, Alton E

Department of Gene Therapy, National Lung and Heart Institute, Faculty of Medicine, Imperial College, London, UK. j.c.davies@imperial.ac.uk

Although over 1,000 disease-causing mutations in the CFTR gene have been described, the highly variable disease phenotype in cystic fibrosis (CF) cannot be explained on the basis of this gene alone. Both the environment and other non-CFTR genes are likely to be important. The increased understanding of pathophysiological processes in the CF lung has led to several studies on genes in these pathways, including those involved in host defense, mucin production, and airway responsiveness. Additionally, candidate modifiers of the gastrointestinal manifestations of CF have been explored. One of the major aims of such studies is to produce targets for novel drug developments. This review will summarize the field to date and discuss some of the methodological issues important in the design and interpretation of such studies.

Published 4 April 2005 in Pediatr Pulmonol, 39(5): 383-91.
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