Phenotypic and Molecular Characterization of Risk Loci Associated With Asthma and Lung Function.

ABSTRACT:

Purpose

Respiratory diseases have a highly multifactorial etiology where different mechanisms contribute to the individual's susceptibility. We conducted a deep characterization of loci associated with asthma and lung function by previous genome-wide association studies (GWAS).

Methods

Sixteen variants were selected from previous GWAS of childhood/adult asthma and pulmonary function tests. We conducted a phenome-wide association study of these loci in 4,083 traits assessed in the UK Biobank (n = 361,194 participants). Data from the Genotype-Tissue Expression (GTEx) project were used to conduct a transcriptomic analysis with respect to tissues relevant for asthma pathogenesis. A pediatric cohort assessed with the International Study of Asthma and Allergies in Children (ISAAC)

SUBMITTER: Karaca M 

PROVIDER: S-EPMC7347000 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature