ArticlePloS one2014
Identification of novel single nucleotide polymorphisms associated with acute respiratory distress syndrome by exome-seq.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
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.
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Who cites it
20 citing papers in PubMed.
- Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome.Respiratory research · 2026Article
- Genetic associations in sepsis and ARDS.Frontiers in pharmacology · 2026Review
- Advancing omics technologies in acute respiratory distress syndrome: paving the way for personalized medicine.Intensive care medicine experimental · 2025Review
- Genetic Determinants of the Acute Respiratory Distress Syndrome.Journal of clinical medicine · 2023Review
- Personalized medicine using omics approaches in acute respiratory distress syndrome to identify biological phenotypes.Respiratory research · 2022Review
- Mechanistic Understanding of Lung Inflammation: Recent Advances and Emerging Techniques.Journal of inflammation research · 2022Review
- Nucleotide polymorphism in ARDS outcome: a whole exome sequencing association study.Annals of translational medicine · 2021Article
- Why COVID-19 is less frequent and severe in children: a narrative review.World journal of pediatrics : WJP · 2021Review
- Neuroinflammation and Precision Medicine in Pediatric Neurocritical Care: Multi-Modal Monitoring of Immunometabolic Dysfunction.International journal of molecular sciences · 2020Review
- A dissection of SARS‑CoV2 with clinical implications (Review).International journal of molecular medicine · 2020Review
- Sepsis-associated acute respiratory distress syndrome in individuals of European ancestry: a genome-wide association study.The Lancet. Respiratory medicine · 2020Article
- Genomic and Genetic Approaches to Deciphering Acute Respiratory Distress Syndrome Risk and Mortality.Antioxidants & redox signaling · 2019Review
- [Establishment of a congenital chloride diarrhea-associated SLC26A3 c.392C>G (p.P131R) polymorphism-expressing cell model and a preliminary analysis of its mechanism of action].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Genomics and the Acute Respiratory Distress Syndrome: Current and Future Directions.International journal of molecular sciences · 2019Review
- Acute Respiratory Distress Syndrome: Bench-to-Bedside Approaches to Improve Drug Development.Clinical pharmacology and therapeutics · 2018Review
- Fifty Years of Research in ARDS. Genomic Contributions and Opportunities.American journal of respiratory and critical care medicine · 2017Review
- Novel translational approaches to the search for precision therapies for acute respiratory distress syndrome.The Lancet. Respiratory medicine · 2017Review
- A Missense Genetic Variant in LRRC16A/CARMIL1 Improves Acute Respiratory Distress Syndrome Survival by Attenuating Platelet Count Decline.American journal of respiratory and critical care medicine · 2017Article
- Complex genetics of pulmonary diseases: lessons from genome-wide association studies and next-generation sequencing.Translational research : the journal of laboratory and clinical medicine · 2016Review
- Preliminary evaluation of exome sequencing to identify genetic markers of susceptibility to tuberculosis disease.BMC research notes · 2015Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Acute respiratory distress syndrome (ARDS) is a lung condition characterized by impaired gas exchange with systemic release of inflammatory mediators, causing pulmonary inflammation, vascular leak and hypoxemia. Existing biomarkers have limited effectiveness as diagnostic and therapeutic targets. To identify disease-associating variants in ARDS patients, whole-exome sequencing was performed on 96 ARDS patients, detecting 1,382,399 SNPs. By comparing these exome data to those of the 1000 Genomes Project, we identified a number of single nucleotide polymorphisms (SNP) which are potentially associated with ARDS. 50,190SNPs were found in all case subgroups and controls, of which89 SNPs were associated with susceptibility. We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. Exome-seq is a powerful tool to identify potential new biomarkers for ARDS. We selectively validated three SNPs which have not been previously associated with ARDS and represent potential new genetic biomarkers for ARDS. Additional validation in larger patient populations and further exploration of underlying molecular mechanisms are warranted.
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