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Updated: Oct 28, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Nucleotide polymorphism in ARDS outcome: a whole exome sequencing association study
Jing-Yuan Xu1, Ai-Ran Liu1, Zong-Sheng Wu1
1Jiangsu Provincial Key Laboratory of Critical Care Medicine, Department of Critical Care Medicine, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, China.
Genetic variants are linked to acute respiratory distress syndrome (ARDS) outcomes. Lung injury burden (LIB) was higher in survivors, but its predictive value for ARDS prognosis requires further validation in larger studies.
Area of Science:
- Genetics
- Pulmonology
- Critical Care Medicine
Background:
- Genetic loci associated with acute respiratory distress syndrome (ARDS) have been identified.
- Previous research indicates a genetic component to ARDS development and progression.
- Understanding genetic influences is crucial for improving ARDS patient outcomes.
Purpose of the Study:
- To explore associations between genetic variants and ARDS outcomes.
- To investigate the relationship between genetic variations and ARDS subphenotypes.
- To evaluate the predictive value of genetic markers for ARDS prognosis.
Main Methods:
- A prospective observational trial enrolled 105 adult ARDS patients.
- Whole exome sequencing and SNP/insertion-deletion analysis were performed on blood samples.
- Lung Injury Burden (LIB), calculated as nonsynonymous SNP number per megabase, was used to assess predictive value.
Main Results:
- LIB was significantly higher in survivors (1,892/MB) compared to nonsurvivors (1,864/MB) (P=0.018).
- Gene Ontology (GO) analysis revealed 60 functions correlated with ARDS outcomes.
- KEGG enrichment analysis identified 13 pathways enriched with SNPs/InDels, suggesting potential new ARDS-associated variants.
Conclusions:
- Genetic variants demonstrate associations with ARDS outcomes and subphenotypes.
- The prognostic value of identified genetic variants requires further investigation in larger clinical trials.
- Lung Injury Burden (LIB) showed limited predictive ability alone (AUC 0.6103) but improved when combined with APACHE II score (AUC 0.712).
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