Genomics of Treatable Traits in Asthma

Abstract

The astounding number of genetic variants revealed in the 15 years of genome-wide association studies of asthma has not kept pace with the goals of translational genomics. Moving asthma diagnosis from a nonspecific umbrella term to specific phenotypes/endotypes and related traits may provide insights into features that may be prevented or alleviated by therapeutical intervention. This review provides an overview of the different asthma endotypes and phenotypes and the genomic findings from asthma studies using patient stratification strategies and asthma-related traits. Asthma genomic research for treatable traits has uncovered novel and previously reported asthma loci, primarily through studies in Europeans. Novel genomic findings for asthma phenotypes and related traits may arise from multi-trait and specific phenotyping strategies in diverse populations.

Unraveling the Complexity of Asthma: Insights from Omics Approaches

“…Nonetheless, our understanding of the mechanisms underlying this condition and related traits remains incomplete [10], most likely because asthma encompasses a diverse range of pathophysiological mechanisms and variable clinical manifestations [2]. As a result, despite the widespread application of genomics in asthma research [11], we continue to lag far behind in translating its findings into the clinical setting [12]. Moving towards a treatable traits perspective in chronic airway disease could further address the complexity of asthma, as well as patient heterogeneity [13].…”