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Approved research

Gene-by-Environment Interactions on Pulmonary Function and Chronic Obstructive Pulmonary Disease (COPD)

Principal Investigator: Miss Woori Kim
Approved Research ID: 29050
Approval date: March 27th 2018

Lay summary

This proposal will test for gene-by-environment interaction on spirometric measures of pulmonary function and the risk of chronic obstructive pulmonary diseases (COPD) in the COPDGene study and the UK Biobank study using observed and imputed genome-wide marker data. A Genome-Wide Environment Interaction Study (GWEIS), a GxE interaction study based on an agnostic approach, will be performed to detect novel genetic factors interacting with not only smoking, the strongest environmental risk factor but also other environmental factors including second-hand smoking, air pollution or dietary intake. UK Biobank aims to improve the prevention, diagnosis and treatment of complex diseases. In line with these goals, this proposal may help to target individuals at highest risk to COPD, a complex and heterogeneous disease that currently represents the 3rd leading cause of death worldwide. Through investigating interaction between environmental risk factors for COPD and genes influencing risk, our results will help establish more tailored prevention strategies for COPD, and eventually contribute to reducing the public health burden of COPD. As investigators in the COPDGene study, we will utilize two datasets, the UK Biobank and the COPDGene study to detect gene-by-environment (GxE) interaction. Because the COPDGene cohort is comprised of heavy smokers who all have 10 or more pack-years of exposure to cigarette smoking, we seek to extend the range of smoking exposure by bringing never smokers and light smokers from UK Biobank to conduct tests for GxE interaction. We request data about observed genotypes, imputed genotypes, smoking, pulmonary function after quality control, air pollution, dietary intake, particularly fruit/vegetable and fish consumption, and demographics from the full UK Biobank sample (n=502,682). In terms of pulmonary function, we request spirometric measures of pulmonary function (in particular, the percent predicted FEV1 and the ratio of FEV1/FVC) which is required for the clinical definition of COPD. As exposure to cigarette smoking is the major environmental risk factor for COPD, we request comprehensive smoking measures such as smoking status, smoking intensity, age at initiation, and age at smoking cessation.