Trial reportRespiratory research2014
DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease.
Trial report in Respiratory research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis 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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Lung Organoids: Systematic Review of Recent Advancements and its Future Perspectives.Tissue engineering and regenerative medicine · 2024Pooled it
- Genome-wide analysis in northern Chinese twins identifies twelve new susceptibility loci for pulmonary function.BMC genomics · 2024Article
- The Genetics behind Sulfation: Impact on Airway Remodeling.Journal of personalized medicine · 2024Review
- Study on Potential Differentially Expressed Genes in Idiopathic Pulmonary Fibrosis by Bioinformatics and Next-Generation Sequencing Data Analysis.Biomedicines · 2023Article
- An Integrated Analysis Reveals Ciliary Abnormalities in Antrochoanal Polyps.Journal of inflammation research · 2023Article
- Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD.ERJ open research · 2022Article
- Lung proteomic biomarkers associated with chronic obstructive pulmonary disease.American journal of physiology. Lung cellular and molecular physiology · 2021Article
- Precision Medicine in Childhood Asthma: Omic Studies of Treatment Response.International journal of molecular sciences · 2020Review
- Pharmacogenetics of Pediatric Asthma: Current Perspectives.Pharmacogenomics and personalized medicine · 2020Review
- Pharmacogenomics of chronic obstructive pulmonary disease.Expert review of respiratory medicine · 2019Review
- An Integrated Analysis of Radial Spoke Head and Outer Dynein Arm Protein Defects and Ciliogenesis Abnormality in Nasal Polyps.Frontiers in genetics · 2019Article
- Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.American journal of respiratory and critical care medicine · 2018Article
- Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.Respiratory research · 2017Article
- Association of nsv823469 copy number loss with decreased risk of chronic obstructive pulmonary disease and pulmonary function in Chinese.Scientific reports · 2017Article
- Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study.PloS one · 2016Article
- Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort.Genetic epidemiology · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundChronic obstructive pulmonary disease (COPD) is characterized by expiratory flow limitation, causing air trapping and lung hyperinflation. Hyperinflation leads to reduced exercise tolerance and poor quality of life in COPD patients. Total lung capacity (TLC) is an indicator of hyperinflation particularly in subjects with moderate-to-severe airflow obstruction. The aim of our study was to identify genetic variants associated with TLC in COPD.
methodsWe performed genome-wide association studies (GWASs) in white subjects from three cohorts: the COPDGene Study; the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); and GenKOLS (Bergen, Norway). All subjects were current or ex-smokers with at least moderate airflow obstruction, defined by a ratio of forced expiratory volume in 1 second to forced vital capacity (FEV1/FVC) <0.7 and FEV1 < 80% predicted on post-bronchodilator spirometry. TLC was calculated by using volumetric computed tomography scans at full inspiration (TLCCT). Genotyping in each cohort was completed, with statistical imputation of additional markers. To find genetic variants associated with TLCCT, linear regression models were used, with adjustment for age, sex, pack-years of smoking, height, and principal components for genetic ancestry. Results were summarized using fixed-effect meta-analysis.
resultsAnalysis of a total of 4,543 COPD subjects identified one genome-wide significant locus on chromosome 5p15.2 (rs114929486, β = 0.42L, P = 4.66 × 10-8).
conclusionsIn COPD, TLCCT was associated with a SNP in dynein, axonemal, heavy chain 5 (DNAH5), a gene in which genetic variants can cause primary ciliary dyskinesia. DNAH5 could have an effect on hyperinflation in COPD.
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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.