Toll-like receptor (TLR) 7 and 8 mediate anti-virus immunity and are of particular relevance to asthma. However, very little information about genetic association on TLR7/8 and asthma are available. This study aimed to evaluate the effects of polymorphisms in TLR7 and 8 on asthma risk and asthma-related phenotypes in a Chinese Han population. We enrolled 462 unrelated adult asthmatic patients and 398 healthy volunteers. The genotypes of tagging single nucleotide polymorphisms (SNPs) in TLR7 and 8 genes were determined using multiplex SNaPshot SNP genotyping assay. We used case-control and case-only studies to assess any links with asthma and asthma-related phenotypes. There was no association between the variants in TLR7 and 8 and asthma susceptibility. However, our results revealed that the genetic variants in TLR7 and 8 were associated with asthma-related phenotypes, including eosinophil counts, serum immunoglobulin E levels, lung function, and asthma severity as well. Our study suggests that TLR7 and 8 polymorphisms may play a considerable role in the pathogenesis of asthma. It will help in better understanding the pathogenesis of asthma and development of more effective strategies for asthma prevention, prediction, and therapy.
Download full-text PDF |
Source |
---|
Clin Rev Allergy Immunol
January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFWorld Allergy Organ J
December 2024
National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Asthma is a complex, heterogeneous condition, broadly characterized by chronic airway inflammation with variable expiratory airflow limitation, but with several subtypes underpinned by different (although likely overlapping) pathological mechanisms. It is one of the most common chronic diseases of childhood and represents a significant cost for healthcare systems and affected families. Evidence suggests that a disproportionate proportion of this burden falls on families from disadvantaged socioeconomic circumstances (SECs).
View Article and Find Full Text PDFERJ Open Res
November 2024
Department of Pulmonary Medicine, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
Background: Underlying immunological mechanisms in children with moderate-to-severe asthma are complex and unclear. We aimed to investigate the association between blood inflammatory parameters and asthma burden in children with moderate-to-severe asthma.
Methods: Blood inflammatory parameters (eosinophil and neutrophil counts and inflammatory mediators using multiplex immunoassay technology) were measured in children (6-17 years) with moderate-to-severe asthma from the SysPharmPediA cohort across four European countries.
J Asthma Allergy
December 2024
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Saga, Saga Prefecture, Japan.
Background: The presence of mucus plugs in the airway is a severe phenotype in patients with asthma; however, the mechanisms and specific treatments are not fully understood.
Purpose: To clarify the efficacy of biologics and the mechanisms for mucus plug in patients with asthma.
Patients And Methods: A 79-year-old Japanese asthmatic woman with high blood eosinophil and fractional exhaled nitric oxide (FeNO) was pointed massive mucus plugs in airway on chest CT imaging.
bioRxiv
November 2024
Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO 80045, USA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
The growing availability of genome-wide association studies (GWAS) and large-scale biobanks provides an unprecedented opportunity to explore the genetic basis of complex traits and diseases. However, with this vast amount of data comes the challenge of interpreting numerous associations across thousands of traits, especially given the high polygenicity and pleiotropy underlying complex phenotypes. Traditional clustering methods, which identify global patterns in data, lack the resolution to capture overlapping associations relevant to subsets of traits or genes.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!