The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …
created a critical need to experimentally validate the disease-associated variants, 90% of …
[HTML][HTML] A decade of research on the 17q12-21 asthma locus: piecing together the puzzle
MM Stein, EE Thompson, N Schoettler… - Journal of Allergy and …, 2018 - Elsevier
Chromosome 17q12-21 remains the most highly replicated and significant asthma locus.
Genotypes in the core region defined by the first genome-wide association study correlate …
Genotypes in the core region defined by the first genome-wide association study correlate …
Maturation of the gut microbiome during the first year of life contributes to the protective farm effect on childhood asthma
Growing up on a farm is associated with an asthma-protective effect, but the mechanisms
underlying this effect are largely unknown. In the Protection against Allergy: Study in Rural …
underlying this effect are largely unknown. In the Protection against Allergy: Study in Rural …
The genetic factors of the airway epithelium associated with the pathology of asthma
M Ranjbar, CE Whetstone, H Omer, L Power… - Genes, 2022 - mdpi.com
Asthma is a chronic disease of the airways characterized by inflammation, tightened
muscles, and thickened airway walls leading to symptoms such as shortness of breath, chest …
muscles, and thickened airway walls leading to symptoms such as shortness of breath, chest …
Chromosome 17q21 genes ORMDL3 and GSDMB in asthma and immune diseases
Chromosome 17q21 contains a cluster of genes including ORMDL3 and GSDMB, which
have been highly linked to asthma in genome-wide association studies. ORMDL3 is …
have been highly linked to asthma in genome-wide association studies. ORMDL3 is …
17q21 asthma-risk variants switch CTCF binding and regulate IL-2 production by T cells
BJ Schmiedel, G Seumois… - Nature …, 2016 - nature.com
Asthma and autoimmune disease susceptibility has been strongly linked to genetic variants
in the 17q21 haploblock that alter the expression of ORMDL3; however, the molecular …
in the 17q21 haploblock that alter the expression of ORMDL3; however, the molecular …
[HTML][HTML] Phenotypic and genetic aspects of epithelial barrier function in asthmatic patients
The bronchial epithelium is continuously exposed to a multitude of noxious challenges in
inhaled air. Cellular contact with most damaging agents is reduced by the action of the …
inhaled air. Cellular contact with most damaging agents is reduced by the action of the …
Decreased sphingolipid synthesis in children with 17q21 asthma–risk genotypes
JG Ono, BI Kim, Y Zhao, PJ Christos… - The Journal of …, 2020 - Am Soc Clin Investig
Risk for childhood asthma is conferred by alleles within the 17q21 locus affecting ORMDL
sphingolipid biosynthesis regulator 3 (ORMDL3) expression. ORMDL3 inhibits sphingolipid …
sphingolipid biosynthesis regulator 3 (ORMDL3) expression. ORMDL3 inhibits sphingolipid …
ORMDL3 and allergic asthma: from physiology to pathology
B James, S Milstien, S Spiegel - Journal of Allergy and Clinical Immunology, 2019 - Elsevier
There is a strong genetic component to asthma, and numerous genome-wide association
studies have identified ORM1 (yeast)–like protein 3 (ORMDL3) as a gene associated with …
studies have identified ORM1 (yeast)–like protein 3 (ORMDL3) as a gene associated with …
SNPs in sites for DNA methylation, transcription factor binding, and miRNA targets leading to allele-specific gene expression and contributing to complex disease risk …
Introduction: The complex genetic diversity among human populations results from an
assortment of factors acting at various sequential levels, including mutations, population …
assortment of factors acting at various sequential levels, including mutations, population …