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Canadian Respiratory Journal
Volume 2016, Article ID 3564341, 12 pages
Research Article

Identification of Susceptibility Genes of Adult Asthma in French Canadian Women

1Institut Universitaire de Cardiologie et de Pneumologie de Québec, Quebec City, QC, Canada G1V 4G5
2Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC, Canada G7H 2B1
3The University of British Columbia Center for Heart Lung Innovation, St. Paul’s Hospital, Vancouver, BC, Canada
4University of British Columbia Department of Medicine, Division of Respiratory Medicine, Vancouver, BC, Canada V5Z 1M9
5University Medical Center Groningen, GRIAC Research Institute, University of Groningen, Groningen, Netherlands
6Merck Research Laboratories (MRL), Seattle, WA, USA
7Department of Molecular Medicine, Laval University, Quebec City, QC, Canada G1V 0A6

Received 17 July 2015; Accepted 5 December 2015

Copyright © 2016 Jean-Christophe Bérubé et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Susceptibility genes of asthma may be more successfully identified by studying subgroups of phenotypically similar asthma patients. This study aims to identify single nucleotide polymorphisms (SNPs) associated with asthma in French Canadian adult women. A pooling-based genome-wide association study was performed in 240 allergic asthmatic and 120 allergic nonasthmatic women. The top associated SNPs were selected for individual genotyping in an extended cohort of 349 asthmatic and 261 nonasthmatic women. The functional impact of asthma-associated SNPs was investigated in a lung expression quantitative trait loci (eQTL) mapping study (). Twenty-one of the 38 SNPs tested by individual genotyping showed values lower than 0.05 for association with asthma. Cis-eQTL analyses supported the functional contribution of rs17801353 associated with C3AR1 (). The asthma risk allele for rs17801353 is associated with higher mRNA expression levels of C3AR1 in lung tissue. In silico functional characterization of the asthma-associated SNPs also supported the contribution of C3AR1 and additional genes including SYNE1, LINGO2, and IFNG-AS1. This pooling-based GWAS in French Canadian adult women followed by lung eQTL mapping suggested C3AR1 as a functional locus associated with asthma. Additional susceptibility genes were suggested in this homogenous subgroup of asthma patients.