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A Polygenic Score for Acute Vaso-Occlusive Pain in Pediatric Sickle Cell Disease

ABSTRACT: A Polygenic Score for Acute Vaso-Occlusive Pain in Pediatric Sickle Cell Disease

PROVIDER: PRJNA739768 | ENA |

REPOSITORIES: ENA

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A Polygenic Score for Acute Vaso-Occlusive Pain in Pediatric Sickle Cell Disease

Project description:A Polygenic Score for Acute Vaso-Occlusive Pain in Pediatric Sickle Cell Disease

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Gene Expression Profiling Identifies Potential Biomarkers for Vaso-Occlusive Episodes in Sickle Cell Disease

Project description:Vaso-occlusive episodes (VOE) or acute pain events, involving complex interactions between sickle erythrocytes and other blood cells, are a hallmark symptom of sickle cell disease (SCD). In this study, we analyzed changes in peripheral blood transcriptomes between steady state and VOE in individuals with SCD. We followed a cohort of 174 individuals with SCD with or without chronic pain and collected peripheral blood at clinic visits (steady state) and during hospitalizations (VOE). We performed RNA-Seq profiling of CD45+ leukocytes and CD71+ erythroid cells. Pathways linked to complement activation, coagulation, and IL6-JAK-STAT3 signaling were enriched at VOE in the CD45+ cells. Contrastingly, the CD71+ cells showed an enrichment of pathways related to the cell cycle such as mTORC1 signaling and the G2M checkpoint. Expression of four genes—FAM20A, IL1B, MS4A4A, and SERPINB2—were elevated during VOE compared to steady state in a majority of patients.

2025-11-26 | GSE291257 | GEO

Gene expression analysis of sickle cell disease patients

Project description:Sickle cell disease (SCD) is a devastating hemoglobinopathy prevalent in Chhattisgarh and other states of central India. Clinical features in SCD arise mainly due to anemia and vaso-occlusion and inflammation leading to gradual multiple organ failure. Vaso-occlusive crisis (VOC) is a common cause of sudden death among SCD patients. Aim of the study was to evaluate gene expression in patients of SCD in a quest to search up-regulated genes in VOC.

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A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.

Project description: Not available

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Project description:Comparing Individualized vs. Weight Based Protocols to Treat Vaso-Occlusive Episodes in Sickle Cell Disease (COMPARE-VOE-BioLINCC)

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Comparing Individualized vs. Weight Based Protocols to Treat Vaso-Occlusive Episodes in Sickle Cell Disease (COMPARE-VOE-BioLINCC)

Project description:Comparing Individualized vs. Weight Based Protocols to Treat Vaso-Occlusive Episodes in Sickle Cell Disease (COMPARE-VOE-BioLINCC)

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Developing a translational polygenic score of biological sensitivity to context

Project description:Developing a translational polygenic score of biological sensitivity to context

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Label free quantification approach comparing hepatic tissue from SCD and healthy mice

Project description:Sickle cell disease (SCD) is characterized by the expression of an abnormal hemoglobin variant (HbS) that promotes distortion and early destruction of red blood cells, resulting in hemolytic anemia, vaso-occlusive crisis, ischemia and, ultimately, tissue damage. Hepatic function is specially compromised in SCD patients; however, the underlying pathological mechanisms remain largely unknown. In the current study, through a label free quantitative proteomic approach, we identified significant alterations in protein expression compared to healthy controls. These changes unveiled distinct proteome expression profiles between groups.

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Developing a translational polygenic score of biological sensitivity to context

Project description:This study builds the first translational model of biological sensitivity to context. In order to determine gene expression patterns that underlie environmental responsivity, we conduct RNA sequencing of ventral dentate gyrus in C57BL6/J mice exposed to two distinctly divergent contexts: environmental enrichment or chronic social defeat stress. Differential expression analysis revealed 18 genes that were commonly regulated in response to these contexts compared to control and were thus considered environmentally responsive irrespective of the valance of the environment. Using the human orthologs, we build a polygenic score of environmental responsivity (ER-ePRS). We then tested whether this ER-ePRS moderated the relationship between the quality of the prevailing environment and anxiety-like or depression problems in four culturally distinctive human cohorts. Results reveal that the molecular underpinnings responsible for environmental responsivity in mice predict a greater propensity to develop psychopathological symptoms in humans in a context and sex dependent manner.

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Project description:Transcriptional changes in compensatory erythropoiesis in sickle cell anemia (SCA) and their disease modulation are unclear. We detected 1226 differentially expressed genes in hemoglobin SS reticulocytes compared to non-anemic hemoglobin AA controls. Assessing developmental expression changes in hemoglobin AA erythroblasts for these genes suggests heightened terminal differentiation in early erythroblasts in SCA that diminishes toward the polychromatic to orthochromatic stage transition. Comparison of reticulocyte gene expression changes in SCA with that in Chuvash erythrocytosis, a non-anemic disorder of increased erythropoiesis due to constitutive activation of hypoxia inducible factors, identified 453 SCA-specific changes attributable to compensatory erythropoiesis. Peripheral blood mononuclear cells (PBMCs) in SCA contain elevated proportions of erythroid progenitors due to heightened erythropoiesis. Deconvolution analysis in PBMCs from 131 SCA patients detected 54 genes whose erythroid expression correlated with erythropoiesis efficiency, which were enriched with SCA-specific changes (OR=2.9, P=0.00063) and annotation keywords of “ubiquitin-dependent protein catabolic process” and “protein ubiquitination” (OR=4.1, P=9.6×10-5). An erythroid expression quantitative trait locus of one of these genes, LNX2 encoding an E3 ubiquitin ligase, associated with severe pain episodes in 774 SCA patients (OR=1.7, P=3.9×10-5). Thus, erythroid gene transcription responds to unique conditions within SCA erythroblasts and these changes potentially correspond to vaso-occlusive manifestations.

2023-08-09 | GSE232221 | GEO

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