Using functional evidence from eQTL studies and deleterious variants to link signals to genes, we identified that 41 of the 97 lung function signals are also the strongest signals of association for expression of, or contain deleterious variants within, 68 genes (which we term “high-priority genes”). Amongst these, novel signals in or near FAM13A and ADAM19, both previously associated with lung function and COPD susceptibility9,33, along with evidence that these signals are themselves eQTLs for FAM13A and ADAM19, provide further evidence for FAM13A and ADAM19 themselves being the drivers of those signals. There was significant enrichment amongst the 68 genes for SH3 domain (including ADAM19), GTPase and actin binding, and fibroblast migration, highlighting the potential importance of pathways relating to the cytoskeleton.
