An international team of researchers have identified lung tissue genes that they say drives variations in lung function and susceptibility to COPD.
Led by Ma’en Obeidat and colleagues from the University of British Columbia Center for Heart Lung Innovation the research team overlaid the largest genome-wide association for lung tissue gene expression (eQTL, study) with the largest GWAS for spirometry, together with publicly available data on blood expression and transcriptional profiles.
They discovered that single nucleotide polymorphisms (SNPs) associated with lung function were enriched for lung eQTLs.
“SNPs associated with lung function measures were more likely to be eQTLs and vice versa. The integration mapped the specific genes underlying the GWAS signals in lung tissue,” they wrote in the Lancet Respiratory Medicine.
They also discovered that lung function eSNP-regulated genes in lung tissue were involved in developmental and inflammatory pathways whereas lung function eSNP-regulated genes in PBMCs were associated only with inflammatory pathways.
According to the authors the results represent testable hypotheses for future in-vitro and in-vivo studies and serve as “a unique resource to the larger scientific community interested in the pathogenesis and genetics of obstructive lung diseases.”