Heritability and genome-wide association study of diffusing capacity of the lung
Fien M. Verhamme,
Ken R Bracke,
Bruno H. C. Stricker,
Guy G. Brusselle,
George T. O’Connor
Posted 09 Apr 2018
bioRxiv DOI: 10.1101/277343 (published DOI: 10.1183/13993003.00647-2018)
Posted 09 Apr 2018
Background: Although several genome wide association studies (GWAS) have investigated the genetics of pulmonary ventilatory function, little is known about the genetic factors that influence gas exchange. Aim: To investigate the heritability of, and genetic variants associated with the diffusing capacity of the lung. Methods: GWAS was performed on diffusing capacity, measured by carbon monoxide uptake (DLCO) and per alveolar volume (DLCO/VA) using the single-breath technique, in 8,372 individuals from two population-based cohort studies, the Rotterdam Study and the Framingham Heart Study. Heritability was estimated in related (n=6,246) and unrelated (n=3,286) individuals. Results: Heritability of DLCO and DLCO/VA ranged between 23% and 28% in unrelated individuals and between 45% and 49% in related individuals. Meta-analysis identified a genetic variant in GPR126 that is significantly associated with DLCO/VA. Gene expression analysis of GPR126 in human lung tissue revealed a decreased expression in patients with COPD and subjects with decreased DLCO/VA. Conclusion: DLCO and DLCO/VA are heritable traits, with a considerable proportion of variance explained by genetics. A functional variant in GPR126 gene region was significantly associated with DLCO/VA. Pulmonary GPR126 expression was decreased in patients with COPD.
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