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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 …
worldwide, with diverse phenotypes and underlying pathogenetic mechanisms poorly …
The accelerated aging phenotype: the role of race and social determinants of health on aging
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 …
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
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 …
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 …
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
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 …
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 …
constitutes an important target for treatment. These cells control muscle tone and thus …
Multi-ancestry meta-analysis and fine-map** in Alzheimer's disease
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 …
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 …
known, and the resultant scientific and ethical limitations are becoming increasingly …
Inclusion of variants discovered from diverse populations improves polygenic risk score transferability
The majority of polygenic risk scores (PRSs) have been developed and optimized in
individuals of European ancestry and may have limited generalizability across other …
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 …
underlying mechanisms remain unclear. Here, we identify a 5 kb region within the GWAS …