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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http://dx.doi.org/10.3390/genes14091824 | DOI Listing |
Expert Rev Respir Med
January 2025
Medical Sciences Post-Graduation Programme, School of Medical Sciences, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
Introduction: Technological advances have led to the proliferation of lung function assessment techniques beyond spirometry in most countries. At the same time, new knowledge of respiratory physiology has allowed an expansion of lung function parameters, requiring an integrated approach to interpreting results.
Areas Covered: This review addresses the major pulmonary function tests (PFTs) used in clinical practice, new concepts regarding reference values, and reformulations of terminology for defining standards of lung function impairment.
Front Oncol
January 2025
College of Medicine and Health, School of Medical Sciences, Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.
Colorectal cancer is one of the leading causes of cancer-related mortality in the world. Incidence and mortality are predicted to rise globally during the next several decades. When detected early, colorectal cancer is treatable with surgery and medications.
View Article and Find Full Text PDFPatient Prefer Adherence
January 2025
Respiratory Research@Alfred, Monash University, Melbourne, VIC, Australia.
Purpose: Oral corticosteroids (OCS) are an effective treatment for severe uncontrolled asthma or asthma exacerbations, but frequent bursts or long-term use carry serious and sometimes irreversible adverse effects, or complications such as adrenal insufficiency upon discontinuation. Our aim was to survey people with asthma on their experiences of, and attitudes towards, using OCS.
Patients And Methods: This study was a national descriptive cross-sectional survey of people with asthma in Australia.
EClinicalMedicine
January 2025
Department of Mathematics, University of Auckland, Auckland, New Zealand.
With the impending 'retirement' of bronchial thermoplasty (BT) for the treatment of patients with asthma, there is much to learn from this real-world experiment that will help us develop more effective future therapies with the same primary target i.e., airway smooth muscle (ASM) remodelling.
View Article and Find Full Text PDFArch Bronconeumol
January 2025
Pulmonology Department, 12th of October University Hospital, 28041 Madrid, Spain.
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