Genomics of Treatable Traits in Asthma

Author:

Espuela-Ortiz Antonio1ORCID,Martin-Gonzalez Elena1,Poza-Guedes Paloma23ORCID,González-Pérez Ruperto23ORCID,Herrera-Luis Esther4ORCID

Affiliation:

1. Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 San Cristóbal de La Laguna, Tenerife, Spain

2. Allergy Department, Hospital Universitario de Canarias, 38320 Santa Cruz de Tenerife, Tenerife, Spain

3. Severe Asthma Unit, Hospital Universitario de Canarias, 38320 San Cristóbal de La Laguna, Tenerife, Spain

4. Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA

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.

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

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