ArticlePLoS genetics2012
Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 125 citations in OpenAlex.
- Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.Scientific reports · 2022Pooled it
- A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.The pharmacogenomics journal · 2016Pooled it
- Step-Up Therapy in Black Children and Adults with Poorly Controlled Asthma.The New England journal of medicine · 2019Trial
- Longitudinal analysis of bronchodilator response in asthmatics and effect modification of age-related trends by genotype.Pediatric pulmonology · 2019Trial
- Gene Polymorphisms Associated with Treatment Response of Asthma in Chinese Children.Journal of asthma and allergy · 2026Article
- Do Glioma Cells Rewire Neural Circuits through Epigenetic Changes? DNA Methylation Analysis of Genes Involved in Neuron-Glioma Communication in the Human Frontal Cortex.Journal of molecular neuroscience : MN · 2025Article
- Transcriptional impacts of substance use disorder and HIV on human ventral midbrain neurons and microglia.Nature communications · 2025Article
- Evaluation of Polygenic Risk Score for Prediction of Childhood Onset and Severity of Asthma.International journal of molecular sciences · 2024Article
- Circulating microRNAs associated with bronchodilator response in childhood asthma.BMC pulmonary medicine · 2024Article
- Machine Learning Prediction of Treatment Response to Inhaled Corticosteroids in Asthma.Journal of personalized medicine · 2024Article
- Spermatogenesis associated serine rich 2 like plays a prognostic factor and therapeutic target in acute myeloid leukemia by regulating the JAK2/STAT3/STAT5 axis.Journal of translational medicine · 2023Article
- Review
- Characteristic DNA methylation profiles of chorionic villi in recurrent miscarriage.Scientific reports · 2022Article
- Whole-Genome Sequencing of 100 Genomes Identifies a Distinctive Genetic Susceptibility Profile of Qatari Patients with Hypertension.Journal of personalized medicine · 2022Article
- A genome-wide association study of bronchodilator response in participants of European and African ancestry from six independent cohorts.ERJ open research · 2022Article
- Establishment and analysis of a disease risk prediction model for the systemic lupus erythematosus with random forest.Frontiers in immunology · 2022Article
- Pharmacogenetic studies of long-acting beta agonist and inhaled corticosteroid responsiveness in randomised controlled trials of individuals of African descent with asthma.The Lancet. Child & adolescent health · 2021Article
- Genomewide Association Studies in Pharmacogenomics.Clinical pharmacology and therapeutics · 2021Review
- Crohn's disease-associated ATG16L1 T300A genotype is associated with improved survival in gastric cancer.EBioMedicine · 2021Article
- Pharmacogenetic Polygenic Risk Score for Bronchodilator Response in Children and Adolescents with Asthma: Proof-of-Concept.Journal of personalized medicine · 2021Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 17 institutions in 3 countries.
Funding
Abstract
Bronchodilator response (BDR) is an important asthma phenotype that measures reversibility of airway obstruction by comparing lung function (i.e. FEV(1)) before and after the administration of a short-acting β(2)-agonist, the most common rescue medications used for the treatment of asthma. BDR also serves as a test of β(2)-agonist efficacy. BDR is a complex trait that is partly under genetic control. A genome-wide association study (GWAS) of BDR, quantified as percent change in baseline FEV(1) after administration of a β(2)-agonist, was performed with 1,644 non-Hispanic white asthmatic subjects from six drug clinical trials: CAMP, LOCCS, LODO, a medication trial conducted by Sepracor, CARE, and ACRN. Data for 469,884 single-nucleotide polymorphisms (SNPs) were used to measure the association of SNPs with BDR using a linear regression model, while adjusting for age, sex, and height. Replication of primary P-values was attempted in 501 white subjects from SARP and 550 white subjects from DAG. Experimental evidence supporting the top gene was obtained via siRNA knockdown and Western blotting analyses. The lowest overall combined P-value was 9.7E-07 for SNP rs295137, near the SPATS2L gene. Among subjects in the primary analysis, those with rs295137 TT genotype had a median BDR of 16.0 (IQR = [6.2, 32.4]), while those with CC or TC genotypes had a median BDR of 10.9 (IQR = [5.0, 22.2]). SPATS2L mRNA knockdown resulted in increased β(2)-adrenergic receptor levels. Our results suggest that SPATS2L may be an important regulator of β(2)-adrenergic receptor down-regulation and that there is promise in gaining a better understanding of the biological mechanisms of differential response to β(2)-agonists through GWAS.
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Registered trials
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.