Contribution of the Saguenay-Lac-Saint-Jean asthma familial cohort in the omic landscape of asthma

Asthma is a chronic respiratory disease afflicting patients of all ages and, despite recent therapeutic advances, still causes important morbidity and mortality. The implication of genetic alterations and the role for environmental factors in its pathogenesis are now accepted. The SLSJ asthma familial cohort from Quebec, Canada is well-recognized and includes data from 1394 individuals distributed in 271 independent families. A phenotypic profile including more than 75 characteristics was defined for each participant (lung function, allergies, etc). This project aims to provide a summary of all contributions of this young founder population to the genetic landscape of asthma and point-out new genes and methylation profiles that could be implicated in the development and progression of this disease. We identified 294 loci significantly associated with asthma and related phenotypes at the genomic, epigenomic or transcriptomic level. Among them, 16 were associated with asthma and related traits using direct integrative approaches (eQTL, mQTL, gene-gene interaction studies). Also, 5 genes were associated with asthma at all three levels: GSDMA (gasdermin A), IL33 (interleukin 33), IL1R2 (interleukin 1 receptor type 2), ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3), ZPBP2 (zona pellucida binding protein 2). Our results contributed to document the omic landscape of asthma. The next step is to use integrative analyses to link genetic and functional data to help decipher and ch...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Genes and environment Source Type: research