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Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.ORCID iD: 0000-0003-4185-7409
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2011 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 48, no 10, 705-709 p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Genetic factors influencing lung function may predispose to chronic obstructive pulmonary disease (COPD). The fibroblast growth factor 10 (FGF10) signalling pathway is critical for lung development and lung epithelial renewal. The hypothesis behind this study was that constitutive FGF10 insufficiency may lead to pulmonary disorder. Therefore investigation of the pulmonary functions of patients heterozygous for loss of function mutations in the FGF10 gene was performed.

METHODS: The spirometric measures of lung function from patients and non-carrier siblings were compared and both groups were related to matched reference data for normal human lung function.

RESULTS: The patients show a significant decrease in lung function parameters when compared to control values. The average FEV1/IVC quota (FEV1%) for the patients is 0.65 (80% of predicted) and reversibility test using Terbutalin resulted in a 3.7% increase in FEV1. Patients with FGF10 haploinsufficiency have lung function parameters indicating COPD. A modest response to Terbutalin confirms an irreversible obstructive lung disease.

CONCLUSION: These findings support the idea that genetic variants affecting the FGF10 signalling pathway are important determinants of lung function that may ultimately contribute to COPD. Specifically, the results show that FGF10 haploinsufficiency affects lung function measures providing a model for a dosage sensitive effect of FGF10 in the development of COPD.

Place, publisher, year, edition, pages
2011. Vol. 48, no 10, 705-709 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-159778DOI: 10.1136/jmedgenet-2011-100166ISI: 000295030700009PubMedID: 21742743OAI: oai:DiVA.org:uu-159778DiVA: diva2:447788
Available from: 2011-10-13 Created: 2011-10-10 Last updated: 2017-12-08Bibliographically approved

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Klar, JoakimDahl, Niklas

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Science for Life Laboratory, SciLifeLabMedical GeneticsDepartment of Immunology, Genetics and Pathology
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