University of Oulu

Pasanen, A. et al. Genome-Wide Association Study of Polymorphisms Predisposing to Bronchiolitis. Sci. Rep. 7, 41653; doi: 10.1038/srep41653 (2017)

Genome-wide association study of polymorphisms predisposing to bronchiolitis

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Author: Pasanen, Anu1,2; Karjalainen, Minna K.1,2; Bont, Louis3;
Organizations: 1PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu
2Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland
3Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
4Kuopio University Hospital, Pediatrics, University of Eastern Finland, Kuopio, Finland
5Department of Pediatrics, University of Gothenburg, Queen Silvia Children’s Hospital, Gothenburg, Sweden
6Department of Immunology, Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands
7RIVM, National Institute for Public Health and the Environment, GZB, Center for Health Protection, Bilthoven, The Netherlands
8Department of Pediatrics, Seinäjoki Central Hospital, Seinäjoki, Finland
9Department of Pediatrics, University of Turku and Turku University Hospital, Turku, Finland
10BioMediTech, University of Tampere, Tampere, Finland
11Center for Child Health Research, Tampere University and Tampere University Hospital, Tampere, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.4 MB)
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Language: English
Published: Springer Nature, 2017
Publish Date: 2017-04-25


Bronchiolitis is a major cause of hospitalization among infants. Severe bronchiolitis is associated with later asthma, suggesting a common genetic predisposition. Genetic background of bronchiolitis is not well characterized. To identify polymorphisms associated with bronchiolitis, we conducted a genome-wide association study (GWAS) in which 5,300,000 single nucleotide polymorphisms (SNPs) were tested for association in a Finnish–Swedish population of 217 children hospitalized for bronchiolitis and 778 controls. The most promising SNPs (n = 77) were genotyped in a Dutch replication population of 416 cases and 432 controls. Finally, we used a set of 202 Finnish bronchiolitis cases to further investigate candidate SNPs. We did not detect genome-wide significant associations, but several suggestive association signals (p < 10⁻⁵) were observed in the GWAS. In the replication population, three SNPs were nominally associated (p < 0.05). Of them, rs269094 was an expression quantitative trait locus (eQTL) for KCND3, previously shown to be associated with occupational asthma. In the additional set of Finnish cases, the association for another SNP (rs9591920) within a noncoding RNA locus was further strengthened. Our results provide a first genome-wide examination of the genetics underlying bronchiolitis. These preliminary findings require further validation in a larger sample size.

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Series: Scientific reports
ISSN: 2045-2322
ISSN-E: 2045-2322
ISSN-L: 2045-2322
Volume: 7
Article number: 41653
DOI: 10.1038/srep41653
Type of Publication: A1 Journal article – refereed
Field of Science: 3123 Gynaecology and paediatrics
3121 General medicine, internal medicine and other clinical medicine
Funding: The research was financed by the Alma and K.A. Snellman Foundation (AP), the Päivikki and Sakari Sohlberg Foundation (AP), the Sigrid Jusélius Foundation (MH), the Competitive State Research Financing of the Expert Responsibility Area of Tampere University Hospital (MiR), the Competitive State Research Financing of the Expert Responsibility Area of Oulu University Hospital (MiR), EVO Grant Tampere University Hospital (MK), and Tampere Tuberculosis Foundation (EP-S).
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