Red Blood Cell-Related Phenotype-Genotype Correlations in Chronic and Acute Critical Illnesses (Traumatic Brain Injury Cohort and COVID-19 Cohort).

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 enrichme

SUBMITTER: Kashatnikova DA 

PROVIDER: S-EPMC11818277 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature