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Approved Research

Association of dysanapsis genetic risk with lung function and health outcomes

Principal Investigator: Dr Benjamin Smith
Approved Research ID: 97748
Approval date: January 31st 2023

Lay summary

Chronic obstructive lung diseases represent a major cause of death and disability in the UK and globally.

Tobacco smoke is the best known risk factor, but only a minority of lifelong tobacco smokers develop chronic obstructive lung disease, suggesting that other factors must contribute.

Dysanapsis refers to a developmental mismatch between airway tree and lung size. Dysanapsis assessed by computed tomography (CT) scan has been shown to be established by early adulthood, and is associated with much higher risk of chronic obstructive lung disease later in life. A recent genetic study identified several polymorphisms associated with dysanapsis and, when combined into a dysanapsis genetic risk score, children with higher dysanapsis genetic risk showed abnormal lung function at 5 years old. This study seeks to test the following hypotheses among UKBiobank participants:

1 Higher dysanapsis genetic risk is associated with low lung function

2 Higher dysanapsis genetic risk is associated with higher rates of death and hospitalization

3 Higher dysanapsis genetic risk increases susceptibility to tobacco smoke and air pollution