ArticleHuman molecular genetics2015
Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 51 citations in OpenAlex.
- Breathing new life into the study of COPD with genes identified from genome-wide association studies.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Microbial dysbiosis and the host airway epithelial response: insights into HIV-associated COPD using multi'omics profiling.Respiratory research · 2023Article
- Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data.Human molecular genetics · 2022Article
- Why is Disease Penetration So Variable? Role of Genetic Modifiers of Lung Function in Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2020Review
- Integration of SNP Disease Association, eQTL, and Enrichment Analyses to Identify Risk SNPs and Susceptibility Genes in Chronic Obstructive Pulmonary Disease.BioMed research international · 2020Article
- Article
- Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution.American journal of respiratory cell and molecular biology · 2019Article
- Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Locus by Massively Parallel Reporter Assays.American journal of respiratory and critical care medicine · 2019Article
- Extracellular matrix in lung development, homeostasis and disease.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Expansion of hedgehog disrupts mesenchymal identity and induces emphysema phenotype.The Journal of clinical investigation · 2018Article
- RNAseq analysis of bronchial epithelial cells to identify COPD-associated genes and SNPs.BMC pulmonary medicine · 2018Article
- Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease.Human genomics · 2018Article
- Prioritizing chronic obstructive pulmonary disease (COPD) candidate genes in COPD-related networks.Oncotarget · 2017Article
- Using omics approaches to understand pulmonary diseases.Respiratory research · 2017Review
- Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution.American journal of respiratory and critical care medicine · 2017Article
- Sex-Based Genetic Association Study Identifies CELSR1 as a Possible Chronic Obstructive Pulmonary Disease Risk Locus among Women.American journal of respiratory cell and molecular biology · 2017Article
- Screening for interaction effects in gene expression data.PloS one · 2017Article
- Visual Assessment of Chest Computed Tomographic Images Is Independently Useful for Genetic Association Analysis in Studies of Chronic Obstructive Pulmonary Disease.Annals of the American Thoracic Society · 2017Article
- Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease.American journal of respiratory and critical care medicine · 2016Article
- Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
22 authors at 11 institutions in 4 countries.
Funding
Abstract
Genetic risk loci have been identified for a wide range of diseases through genome-wide association studies (GWAS), but the relevant functional mechanisms have been identified for only a small proportion of these GWAS-identified loci. By integrating results from the largest current GWAS of chronic obstructive disease (COPD) with expression quantitative trait locus (eQTL) analysis in whole blood and sputum from 121 subjects with COPD from the ECLIPSE Study, this analysis identifies loci that are simultaneously associated with COPD and the expression of nearby genes (COPD eQTLs). After integrative analysis, 19 COPD eQTLs were identified, including all four previously identified genome-wide significant loci near HHIP, FAM13A, and the 15q25 and 19q13 loci. For each COPD eQTL, fine mapping and colocalization analysis to identify causal shared eQTL and GWAS variants identified a subset of sites with moderate-to-strong evidence of harboring at least one shared variant responsible for both the eQTL and GWAS signals. Transcription factor binding site (TFBS) analysis confirms that multiple COPD eQTL lead SNPs disrupt TFBS, and enhancer enrichment analysis for loci with the strongest colocalization signals showed enrichment for blood-related cell types (CD3 and CD4+ T cells, lymphoblastoid cell lines). In summary, integrative eQTL and GWAS analysis confirms that genetic control of gene expression plays a key role in the genetic architecture of COPD and identifies specific blood-related cell types as likely participants in the functional pathway from GWAS-associated variant to disease phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.