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Genomics of Treatable Traits in Asthma

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 insight...

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Autores principales: Espuela-Ortiz, Antonio, Martin-Gonzalez, Elena, Poza-Guedes, Paloma, González-Pérez, Ruperto, Herrera-Luis, Esther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531302/
https://www.ncbi.nlm.nih.gov/pubmed/37761964
http://dx.doi.org/10.3390/genes14091824
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author Espuela-Ortiz, Antonio
Martin-Gonzalez, Elena
Poza-Guedes, Paloma
González-Pérez, Ruperto
Herrera-Luis, Esther
author_facet Espuela-Ortiz, Antonio
Martin-Gonzalez, Elena
Poza-Guedes, Paloma
González-Pérez, Ruperto
Herrera-Luis, Esther
author_sort Espuela-Ortiz, Antonio
collection PubMed
description 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.
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spelling pubmed-105313022023-09-28 Genomics of Treatable Traits in Asthma Espuela-Ortiz, Antonio Martin-Gonzalez, Elena Poza-Guedes, Paloma González-Pérez, Ruperto Herrera-Luis, Esther Genes (Basel) Review 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. MDPI 2023-09-20 /pmc/articles/PMC10531302/ /pubmed/37761964 http://dx.doi.org/10.3390/genes14091824 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Espuela-Ortiz, Antonio
Martin-Gonzalez, Elena
Poza-Guedes, Paloma
González-Pérez, Ruperto
Herrera-Luis, Esther
Genomics of Treatable Traits in Asthma
title Genomics of Treatable Traits in Asthma
title_full Genomics of Treatable Traits in Asthma
title_fullStr Genomics of Treatable Traits in Asthma
title_full_unstemmed Genomics of Treatable Traits in Asthma
title_short Genomics of Treatable Traits in Asthma
title_sort genomics of treatable traits in asthma
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531302/
https://www.ncbi.nlm.nih.gov/pubmed/37761964
http://dx.doi.org/10.3390/genes14091824
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