ArticlePLoS genetics2012
Lung eQTLs to help reveal the molecular underpinnings of asthma.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 182 papers, 23 of them syntheses that pooled it.
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Who cites it
182 citing papers in PubMed, 23 syntheses or guidelines pooled it, 329 citations in OpenAlex.
- Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.Nature communications · 2024Pooled it
- Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.Communications biology · 2023Pooled it
- Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.Nature genetics · 2023Pooled it
- Mapping the human genetic architecture of COVID-19.Nature · 2021Pooled it
- Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.PLoS genetics · 2021Pooled it
- Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.PLoS genetics · 2019Pooled it
- Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.Nature communications · 2018Pooled it
- Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group.The pharmacogenomics journal · 2018Pooled it
- Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.Nature genetics · 2018Pooled it
- A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.The European respiratory journal · 2017Pooled it
- Pleiotropic Analysis of Lung Cancer and Blood Triglycerides.Journal of the National Cancer Institute · 2016Pooled it
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- A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.Nature genetics · 2015Pooled it
- Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.American journal of respiratory cell and molecular biology · 2015Pooled it
- Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.The European respiratory journal · 2015Pooled it
- Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.Nature communications · 2014Pooled it
- Genome-wide interaction studies reveal sex-specific asthma risk alleles.Human molecular genetics · 2014Pooled it
- Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.Respiratory research · 2014Pooled it
- DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.Human molecular genetics · 2014Pooled it
122 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
29 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have identified loci reproducibly associated with pulmonary diseases; however, the molecular mechanism underlying these associations are largely unknown. The objectives of this study were to discover genetic variants affecting gene expression in human lung tissue, to refine susceptibility loci for asthma identified in GWAS studies, and to use the genetics of gene expression and network analyses to find key molecular drivers of asthma. We performed a genome-wide search for expression quantitative trait loci (eQTL) in 1,111 human lung samples. The lung eQTL dataset was then used to inform asthma genetic studies reported in the literature. The top ranked lung eQTLs were integrated with the GWAS on asthma reported by the GABRIEL consortium to generate a Bayesian gene expression network for discovery of novel molecular pathways underpinning asthma. We detected 17,178 cis- and 593 trans- lung eQTLs, which can be used to explore the functional consequences of loci associated with lung diseases and traits. Some strong eQTLs are also asthma susceptibility loci. For example, rs3859192 on chr17q21 is robustly associated with the mRNA levels of GSDMA (P = 3.55 × 10(-151)). The genetic-gene expression network identified the SOCS3 pathway as one of the key drivers of asthma. The eQTLs and gene networks identified in this study are powerful tools for elucidating the causal mechanisms underlying pulmonary disease. This data resource offers much-needed support to pinpoint the causal genes and characterize the molecular function of gene variants associated with lung diseases.
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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.