Heritability and genome-wide association study of diffusing capacity of the lung

What is it about?

The lungs have an important function to provide the body with oxygen through ventilation and gas exchange. Test for diffusing capacity of carbon monoxide (DLCO) is a quantitative measure of gas exchange and reflects processes in the alveolar compartment and pulmonary microcirculation. In contrast to the abundance of genome-wide association studies (GWAS) investigating genetic variation of spirometry measures, the heritability of and genetic influences on DLCO are largely unknown. This is the first study that has investigated the heritability of and genome-wide association with diffusing capacity of the lung using population-based cohort studies. We demonstrated that DLCO is a heritable trait with a considerable proportion of variance in diffusing capacity of the lung explained by genetics. We identified a functional variant in ADGRG6, a gene which is involved in gas exchange and hypoxia, and demonstrated that it is differentially expressed in lung tissue of patients with COPD and individuals with decreased diffusing capacity.

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