ArticleInternational journal of molecular sciences2025
Red Blood Cell-Related Phenotype-Genotype Correlations in Chronic and Acute Critical Illnesses (Traumatic Brain Injury Cohort and COVID-19 Cohort).
Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Article
- Safety Assessment of the Ethanolic Seed Extract ofPharmaceuticals (Basel, Switzerland) · 2026Article
- Erythrocytes as immunomodulators in trauma: orchestrating clearance pathways, inflammation, and organ injury.Frontiers in immunology · 2026Review
- TREC dynamics as a biomarker of naive T-cell homeostasis in traumatic brain injury: a longitudinal analysis.Frontiers in medicine · 2026Article
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7 authors.
Funding
Abstract
Changes in red blood cell (RBC)-related parameters and anemia are common in both severe chronic and acute diseases. RBC-related phenotypes have a heritable component. However, it is unclear whether the contribution of genetic variability is pronounced when hematological parameters are affected by physiological stress. In this study, we analyzed RBC-related phenotypes and phenotype-genotype correlations in two exome-sequenced patient cohorts with or at a high risk for a critical illness: chronic TBI patients admitted for rehabilitation and patients with acute COVID-19. In the analysis of exome data, we focused on the cumulative effects of rare high-impact variants (qualifying variants, QVs) in specific gene sets, represented by Notch signaling pathway genes, based on the results of enrichment analysis in anemic TBI patients and three predefined gene sets for phenotypes of interest derived from GO, GWAS, and HPO resources. In both patient cohorts, anemia was associated with the cumulative effects of QVs in the GO (TBI:
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