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

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Tác giả: Alesya S Gracheva, Darya A Kashatnikova, Tatyana N Krylova, Artem N Kuzovlev, Ivan V Redkin, Lyubov E Salnikova, Vladislav E Zakharchenko

Ngôn ngữ: eng

Ký hiệu phân loại: 912.01 Philosophy and theory

Thông tin xuất bản: Switzerland : International journal of molecular sciences , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 70372

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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