1. Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank
- Author
-
Ma'en Obeidat, Krystelle Godbout, Kim Valette, Philippe Joubert, Louis-Philippe Boulet, Sébastien Thériault, Maarten van den Berge, Patrick Mathieu, Arnaud Chignon, Catherine Labbé, Valentin Bon-Baret, Jean-Christophe Bérubé, Jennifer Lamothe, Nathalie Gaudreault, Aida Eslami, David C. Nickle, Ke Hao, Don D. Sin, Zhonglin Li, Michel Laviolette, Wim Timens, Andréanne Côté, Yohan Bossé, Groningen Research Institute for Asthma and COPD (GRIAC), and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
- Subjects
0301 basic medicine ,Adult ,Male ,QH301-705.5 ,Medicine (miscellaneous) ,Genome-wide association study ,CLEC16A ,VARIANTS ,Biology ,Genome-wide association studies ,General Biochemistry, Genetics and Molecular Biology ,Article ,03 medical and health sciences ,0302 clinical medicine ,Mendelian randomization ,medicine ,Humans ,Genetic Predisposition to Disease ,Biology (General) ,Gene ,EQTL ,Asthma ,Genetic association ,Aged ,Biological Specimen Banks ,RISK ,Genetics ,GENOME-WIDE ,ASSOCIATION ,Middle Aged ,medicine.disease ,Biobank ,United Kingdom ,Gene expression profiling ,respiratory tract diseases ,030104 developmental biology ,Genetic Loci ,Expression quantitative trait loci ,Female ,General Agricultural and Biological Sciences ,Transcriptome ,SET ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
To identify candidate causal genes of asthma, we performed a genome-wide association study (GWAS) in UK Biobank on a broad asthma definition (n = 56,167 asthma cases and 352,255 controls). We then carried out functional mapping through transcriptome-wide association studies (TWAS) and Mendelian randomization in lung (n = 1,038) and blood (n = 31,684) tissues. The GWAS reveals 72 asthma-associated loci from 116 independent significant variants (PGWAS, Kim Valette et al. perform a genomic study on asthma integrating genome-wide association study, functional mapping using lung and blood transcriptome-wide profiles, as well as Mendelian randomization. They show candidate causal genes expressed in lung and blood tissues that are putative therapeutic targets for asthma.
- Published
- 2020