ArticleBMC medical genetics2012
SNP-set analysis replicates acute lung injury genetic risk factors.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Personalized medicine using omics approaches in acute respiratory distress syndrome to identify biological phenotypes.Respiratory research · 2022Review
- Plasma sRAGE Acts as a Genetically Regulated Causal Intermediate in Sepsis-associated Acute Respiratory Distress Syndrome.American journal of respiratory and critical care medicine · 2020Article
- Plasma angiopoietin-2 as a potential causal marker in sepsis-associated ARDS development: evidence from Mendelian randomization and mediation analysis.Intensive care medicine · 2018Observational
- Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.Critical care (London, England) · 2016Article
- Testing and estimation in marker-set association study using semiparametric quantile regression kernel machine.Biometrics · 2016Article
- Polymorphisms in VEGF-A are associated with COPD risk in the Chinese population from Hainan province.Journal of genetics · 2016Article
- Beyond single-nucleotide polymorphisms: genetics, genomics, and other 'omic approaches to acute respiratory distress syndrome.Clinics in chest medicine · 2014Review
- Pleiotropic effects of interleukin-6 in a "two-hit" murine model of acute respiratory distress syndrome.Pulmonary circulation · 2014Article
- Applying metabolomics to uncover novel biology in ARDS.American journal of physiology. Lung cellular and molecular physiology · 2014Review
- IL1RN coding variant is associated with lower risk of acute respiratory distress syndrome and increased plasma IL-1 receptor antagonist.American journal of respiratory and critical care medicine · 2013Article
- Kernel machine SNP-set testing under multiple candidate kernels.Genetic epidemiology · 2013Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundWe used a gene - based replication strategy to test the reproducibility of prior acute lung injury (ALI) candidate gene associations.
methodsWe phenotyped 474 patients from a prospective severe trauma cohort study for ALI. Genomic DNA from subjects' blood was genotyped using the IBC chip, a multiplex single nucleotide polymorphism (SNP) array. Results were filtered for 25 candidate genes selected using prespecified literature search criteria and present on the IBC platform. For each gene, we grouped SNPs according to haplotype blocks and tested the joint effect of all SNPs on susceptibility to ALI using the SNP-set kernel association test. Results were compared to single SNP analysis of the candidate SNPs. Analyses were separate for genetically determined ancestry (African or European).
resultsWe identified 4 genes in African ancestry and 2 in European ancestry trauma subjects which replicated their associations with ALI. Ours is the first replication of IL6, IL10, IRAK3, and VEGFA associations in non-European populations with ALI. Only one gene - VEGFA - demonstrated association with ALI in both ancestries, with distinct haplotype blocks in each ancestry driving the association. We also report the association between trauma-associated ALI and NFKBIA in European ancestry subjects.
conclusionsPrior ALI genetic associations are reproducible and replicate in a trauma cohort. Kernel - based SNP-set analysis is a more powerful method to detect ALI association than single SNP analysis, and thus may be more useful for replication testing. Further, gene-based replication can extend candidate gene associations to diverse ethnicities.
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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.