ArticleAmerican journal of respiratory and critical care medicine2017
Extreme Trait Whole-Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction.
Article in American journal of respiratory and critical care medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- Genome-Wide Association Study of Vertical Jump Performance Among Elite Badminton Players.International journal of molecular sciences · 2026Article
- Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data.Human molecular genetics · 2022Article
- Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD.Biomedicines · 2022Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- RIP3-dependent necroptosis contributes to the pathogenesis of chronic obstructive pulmonary disease.JCI insight · 2021Article
- Prognostic signature of lung adenocarcinoma based on stem cell-related genes.Scientific reports · 2021Article
- Accuracy and efficiency of germline variant calling pipelines for human genome data.Scientific reports · 2020Article
- Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia.European journal of pediatrics · 2020Article
- Genetics of COPD.Annual review of physiology · 2020Review
- Cigarette smoke exposure enhances transforming acidic coiled-coil-containing protein 2 turnover and thereby promotes emphysema.JCI insight · 2020Article
- Pharmacogenomics of chronic obstructive pulmonary disease.Expert review of respiratory medicine · 2019Review
- Identifying Chronic Obstructive Pulmonary Disease Genes: Shining the Light on Dark DNA.American journal of respiratory cell and molecular biology · 2019Article
- Genomic Predictors of Asthma Phenotypes and Treatment Response.Frontiers in pediatrics · 2019Review
- High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report.Annals of the American Thoracic Society · 2019Article
- Comparison of three variant callers for human whole genome sequencing.Scientific reports · 2018Article
- Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease.American journal of respiratory cell and molecular biology · 2018Article
- Whole-Genome Sequencing in Common Respiratory Diseases. Ready, Set, Go!American journal of respiratory and critical care medicine · 2017Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
rationaleGenetic association studies in chronic obstructive pulmonary disease have primarily tested for association with common variants, the results of which explain only a portion of disease heritability. Because rare variation is also likely to contribute to susceptibility, we used whole-genome sequencing of subjects with clinically extreme phenotypes to identify genomic regions enriched for rare variation contributing to chronic obstructive pulmonary disease susceptibility.
objectivesTo identify regions of rare genetic variation contributing to emphysema with severe airflow obstruction.
methodsWe identified heavy smokers that were resistant (n = 65) or susceptible (n = 64) to emphysema with severe airflow obstruction in the Pittsburgh Specialized Center of Clinically Oriented Research cohort. We filtered whole-genome sequencing results to include only rare variants and conducted single variant tests, region-based tests across the genome, gene-based tests, and exome-wide tests. MEASUREMENTS AND MAIN
resultsWe identified several suggestive associations with emphysema with severe airflow obstruction, including a suggestive association of all rare variation in a region within the gene ZNF816 (19q13.41; P = 4.5 × 10
conclusionsPTPRO is a novel candidate gene in emphysema with severe airflow obstruction, and rs61754411 is a previously unreported rare variant contributing to emphysema susceptibility. Other suggestive candidate genes, such as ZNF816, are of interest for future studies.
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