Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function.

ABSTRACT: Genome-wide association studies have identified numerous common genetic variants associated with spirometric measures of pulmonary function, including forced expiratory volume in one second (FEV₁), forced vital capacity, and their ratio. However, variants with lower minor allele frequencies are less explored. We conducted a large-scale gene-smoking interaction meta-analysis on exonic rare and low-frequency variants involving 44,429 individuals of European ancestry in the discovery stage and sought replication in the UK BiLEVE study with 45,133 European ancestry samples and UK Biobank study with 59,478 samples. We leveraged data on cigarette smoking, the major environmental risk factor for reduced lung function, by testing gene-by-smoking interaction effects only and simultaneous

SUBMITTER: Yang T 

PROVIDER: S-EPMC8481467 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature