Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution

Genome-wide association studies (GWAS) have identified multiple associations with emphysema apicobasal distribution (EABD), but the biological functions of these variants are unknown. To characterize the functions of EABD-associated variants, we integrated GWAS results with 1) expression quantitativ...

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Veröffentlicht in:	American journal of respiratory cell and molecular biology 2019-04, Vol.60 (4), p.388-398
Hauptverfasser:	Boueiz, Adel, Pham, Betty, Chase, Robert, Lamb, Andrew, Lee, Sool, Naing, Zun Zar Chi, Cho, Michael H, Parker, Margaret M, Sakornsakolpat, Phuwanat, Hersh, Craig P, Crapo, James D, Stergachis, Andrew B, Tal-Singer, Ruth, DeMeo, Dawn L, Silverman, Edwin K, Zhou, Xiaobo, Castaldi, Peter J
Format:	Artikel
Sprache:	eng
Schlagworte:	Activin Activin Receptors, Type I - genetics CD4 antigen CD8 antigen Cell Line, Tumor Cell lines Chronic obstructive pulmonary disease Consortia Disease Emphysema Epidemiology Epigenetics Gene expression Genetic Predisposition to Disease - genetics Genome-wide association studies Genome-Wide Association Study Genomes Genomics Genotype & phenotype Genotypes Growth factors Humans Immunoregulation Jurkat Cells Lung - pathology Lymphocytes T Original Research Phenotypes Polymorphism, Single Nucleotide - genetics Proof of Concept Study Pulmonary Emphysema - genetics Quantitative trait loci Quantitative Trait Loci - genetics Regulatory sequences Single-nucleotide polymorphism Studies T-Lymphocyte Subsets - immunology Transforming Growth Factor beta1 - metabolism
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