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

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Abstract
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. The aim of the study was to investigate the heritability of, and genetic variants associated with the diffusing capacity of the lung. GWAS was performed on diffusing capacity of the lung measured by carbon monoxide uptake (DLCO) and per alveolar volume (VA) using the single-breath technique, in 8372 individuals from two population-based cohort studies, the Rotterdam Study and the Framingham Heart Study. Heritability was estimated in related (n=6246) and unrelated (n=3286) individuals. 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 ADGRG6 that is significantly associated with DLCO/VA. Gene expression analysis of ADGRG6 in human lung tissue revealed a decreased expression in patients with chronic obstructive pulmonary disease (COPD) and subjects with decreased DLCO/VA. DLCO and DLCO/VA are heritable traits, with a considerable proportion of variance explained by genetics. A functional variant in ADGRG6 gene region was significantly associated with DLCO/VA. Pulmonary ADGRG6 expression was decreased in patients with COPD.
Keywords
GENETIC VARIANCE, LOCI

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Chicago
Terzikhan, Natalie, Fangui Sun, Fien Verhamme, Hieab HH Adams, Daan Loth, Ken Bracke, Bruno HC Stricker, et al. 2018. “Heritability and Genome-wide Association Study of Diffusing Capacity of the Lung.” European Respiratory Journal 52 (3).
APA
Terzikhan, N., Sun, F., Verhamme, F., Adams, H. H., Loth, D., Bracke, K., Stricker, B. H., et al. (2018). Heritability and genome-wide association study of diffusing capacity of the lung. EUROPEAN RESPIRATORY JOURNAL, 52(3).
Vancouver
1.
Terzikhan N, Sun F, Verhamme F, Adams HH, Loth D, Bracke K, et al. Heritability and genome-wide association study of diffusing capacity of the lung. EUROPEAN RESPIRATORY JOURNAL. 2018;52(3).
MLA
Terzikhan, Natalie, Fangui Sun, Fien Verhamme, et al. “Heritability and Genome-wide Association Study of Diffusing Capacity of the Lung.” EUROPEAN RESPIRATORY JOURNAL 52.3 (2018): n. pag. Print.
@article{8574523,
  abstract     = {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. The aim of the study was to investigate the heritability of, and genetic variants associated with the diffusing capacity of the lung. 
GWAS was performed on diffusing capacity of the lung measured by carbon monoxide uptake (DLCO) and per alveolar volume (VA) using the single-breath technique, in 8372 individuals from two population-based cohort studies, the Rotterdam Study and the Framingham Heart Study. Heritability was estimated in related (n=6246) and unrelated (n=3286) individuals. 
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 ADGRG6 that is significantly associated with DLCO/VA. Gene expression analysis of ADGRG6 in human lung tissue revealed a decreased expression in patients with chronic obstructive pulmonary disease (COPD) and subjects with decreased DLCO/VA. 
DLCO and DLCO/VA are heritable traits, with a considerable proportion of variance explained by genetics. A functional variant in ADGRG6 gene region was significantly associated with DLCO/VA. Pulmonary ADGRG6 expression was decreased in patients with COPD.},
  articleno    = {1800647},
  author       = {Terzikhan, Natalie and Sun, Fangui and Verhamme, Fien and Adams, Hieab HH and Loth, Daan and Bracke, Ken and Stricker, Bruno HC and Lahousse, Lies and Dupuis, Jos{\'e}e and Brusselle, Guy and O'Connor, George T},
  issn         = {0903-1936},
  journal      = {EUROPEAN RESPIRATORY JOURNAL},
  keyword      = {GENETIC VARIANCE,LOCI},
  language     = {eng},
  number       = {3},
  pages        = {11},
  title        = {Heritability and genome-wide association study of diffusing capacity of the lung},
  url          = {http://dx.doi.org/10.1183/13993003.00647-2018},
  volume       = {52},
  year         = {2018},
}

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