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Multi-Ancestry Genome-Wide Association Analyses Implicate Genes and Pathways Influencing Pulmonary Diseases

Tobin MD.

Respiratory Drug Delivery 2023. Volume , 2023: 1-2.

Abstract:

Genetic evidence is increasingly deployed to improve drug target discovery and validation, and selecting genetically supported targets can double the success rate in clinical development. A growing number of drugs and compounds in clinical development have been either supported by or primarily driven by genetic evidence.

Chronic obstructive pulmonary disease (COPD) has the highest prevalence of chronic respiratory diseases globally, accounting for over 3.2 million deaths. To better understand the genetic determinants of COPD, we formed the SpiroMeta consortium, hypothesizing that genetic variants associated with lung function across a whole population would also be associated with COPD. The SpiroMeta consortium has studied genetic associations with forced expired volume in 1 second (FEV1), forced vital capacity (FVC), FEV1/FVC, and peak expiratory flow rate (PEF) and has since published over 20 papers that inform understanding of COPD. Current challenges include more confident identification of causal genetic variants and causal genes, the under-representation of non-European ancestry participants and understanding the tractability of drug targets.