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New modifier loci in cystic fibrosis

Nature Genetics volume 43, pages 508–509 (2011)Cite this article

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A genome-wide association study has identified two new loci modifying pulmonary disease severity in cystic fibrosis. Although this data offers clues to pathways influencing pulmonary function, the underlying genes and mechanisms remain to be elucidated.

Cystic fibrosis is an autosomal recessive inherited disorder caused by alterations in CFTR, the cystic fibrosis transmembrane conductance regulator gene1,2. The disease is characterized by chronic obstructive pulmonary disease frequently resulting in lung failure, exocrine pancreatic insufficiency with maldigestion, and elevated sweat chloride concentrations. Other clinical features include liver fibrosis and male infertility caused by obstructive azoospermia. The estimated incidence of cystic fibrosis is approximately 1 in 2,500. Pulmonary disease is the primary cause of death in cystic fibrosis and accounts for more than 90% of the disease mortality. The clinical course differs markedly between individuals with identical CFTR alterations, even in the same family, suggesting that additional environmental and inherited factors alter the phenotype. On page 539 of this issue, Michael Knowles, Garry Cutting and colleagues report a genome-wide association study (GWAS) for modifiers of cystic fibrosis–related lung disease3.

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  1. Heiko Witt is at Else Kröner-Fresenius-Zentrum for Nutritional Medicine and the Department of Paediatrics, Technische Universität München (TUM), Munich, Germany.,

    Heiko Witt

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  1. Heiko Witt
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Correspondence to Heiko Witt.

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Witt, H. New modifier loci in cystic fibrosis. Nat Genet 43, 508–509 (2011). https://doi.org/10.1038/ng.844

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