Genetics and epigenetics in asthma

P Ntontsi, A Photiades, E Zervas, G Xanthou… - International journal of …, 2021 - mdpi.com
Asthma is one of the most common respiratory disease that affects both children and adults
worldwide, with diverse phenotypes and underlying pathogenetic mechanisms poorly …

The accelerated aging phenotype: the role of race and social determinants of health on aging

NN Hooten, NL Pacheco, JT Smith, MK Evans - Ageing Research Reviews, 2022 - Elsevier
The pursuit to discover the fundamental biology and mechanisms of aging within the context
of the physical and social environment is critical to designing interventions to prevent and …

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

M Sharma, D Leung, M Momenilandi… - Journal of Experimental …, 2023 - rupress.org
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …

Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank

K Valette, Z Li, V Bon-Baret, A Chignon… - Communications …, 2021 - nature.com
To identify candidate causal genes of asthma, we performed a genome-wide association
study (GWAS) in UK Biobank on a broad asthma definition (n= 56,167 asthma cases and …

Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma

Y Han, Q Jia, PS Jahani, BP Hurrell, C Pan… - Nature …, 2020 - nature.com
Asthma is a chronic and genetically complex respiratory disease that affects over 300 million
people worldwide. Here, we report a genome-wide analysis for asthma using data from the …

Airway smooth muscle pathophysiology in asthma

B Camoretti-Mercado, RF Lockey - Journal of Allergy and Clinical …, 2021 - Elsevier
The airway smooth muscle (ASM) cell plays a central role in the pathogenesis of asthma and
constitutes an important target for treatment. These cells control muscle tone and thus …

Multi-ancestry meta-analysis and fine-map** in Alzheimer's disease

J Lake, C Warly Solsberg, JJ Kim, J Acosta-Uribe… - Molecular …, 2023 - nature.com
Genome-wide association studies (GWAS) of Alzheimer's disease are predominantly carried
out in European ancestry individuals despite the known variation in genetic architecture and …

Evaluating the promise of inclusion of African ancestry populations in genomics

AR Bentley, SL Callier, CN Rotimi - NPJ genomic medicine, 2020 - nature.com
The lack of representation of diverse ancestral backgrounds in genomic research is well-
known, and the resultant scientific and ethical limitations are becoming increasingly …

Inclusion of variants discovered from diverse populations improves polygenic risk score transferability

TB Cavazos, JS Witte - Human Genetics and Genomics Advances, 2021 - cell.com
The majority of polygenic risk scores (PRSs) have been developed and optimized in
individuals of European ancestry and may have limited generalizability across other …

Asthma-associated genetic variants induce IL33 differential expression through an enhancer-blocking regulatory region

I Aneas, DC Decker, CL Howard, DR Sobreira… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have implicated the IL33 locus in asthma, but the
underlying mechanisms remain unclear. Here, we identify a 5 kb region within the GWAS …