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Identification of susceptibility genes of adult asthma in french Canadian women

Bérubé Jean-Christophe, Gaudreault Nathalie, Lavoie-Charland Émilie, Sbarra Laura, Henry Cyndi, Madore Anne-Marie, Paré Peter D., van den Berge Maarten, Nickle David, Laviolette Michel, Laprise Catherine, Boulet Louis-Philippe et Bossé Yohan. (2016). Identification of susceptibility genes of adult asthma in french Canadian women. Canadian Respiratory Journal, 2016, p. 1-12.

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URL officielle: http://dx.doi.org/doi:10.1155/2016/3564341

Résumé

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 (n = 1035). Twenty-one of the 38 SNPs tested by individual genotyping showed P values lower than 0.05 for association with asthma. Cis-eQTL analyses supported the functional contribution of rs17801353 associated with C3AR1 (P = 7.90E-10). 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.

Type de document:Article publié dans une revue avec comité d'évaluation
Volume:2016
Pages:p. 1-12
Version évaluée par les pairs:Oui
Date:2016
Sujets:Sciences de la santé > Sciences médicales > Biologie moléculaire
Sciences de la santé > Sciences médicales > Génétique
Département, module, service et unité de recherche:Départements et modules > Département des sciences fondamentales
Mots-clés:Asthma, genetics, single nucleotide polymorphisms, genome-wide association studies, GWASs, individual genotyping, expression quantitative trait loci, eQTL, in silico functional prediction
Informations complémentaires:Matériel supplémentaire disponible/Supplementary material available: http://www.hindawi.com/journals/crj/2016/3564341/sup/
Déposé le:09 mai 2016 22:09
Dernière modification:05 déc. 2016 20:51
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