Evidence map›Paper›PMID 41797711›Full record

ArticleJCI insight2026

Gene expression profiling identifies potential biomarkers for vaso-occlusive episodes in sickle cell disease.

Varsha Bhat, Justin J Yoo, Srija Ponna, Alka A Potdar, Ashwin P Patel, G Karen Yu, Greg Gibson, Vivien A Sheehan

Abstract read
In one paragraph

Article in JCI insight, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Varsha BhatCenter for Integrative Genomics, School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia, USA.
Justin J YooAflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA.
Srija PonnaAflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA.
Alka A PotdarPfizer, South San Francisco, California, USA.
Ashwin P PatelAflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA.
G Karen YuPfizer, South San Francisco, California, USA.
Greg GibsonCenter for Integrative Genomics, School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia, USA.
Vivien A SheehanAflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA.

Funding

Transcriptomics of Pain in Sickle Cell DiseaseR01HL164583 · NHLBI · EMORY UNIVERSITY · PI SHEEHAN, VIVIEN ANDREA · 2022 to 2025
$1.5M
NHLBI NIH HHS R01 HL164583
6 · The paper itself

Abstract

Vaso-occlusive episodes (VOEs) or acute pain events, involving complex interactions between sickle erythrocytes and other blood cells, are a hallmark of sickle cell disease (SCD). In this study, we analyzed changes in peripheral blood transcriptomes between steady state and VOEs 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 (VOEs). We performed RNA-Seq profiling of CD45+ leukocytes and CD71+ erythroid cells. Pathways linked to complement activation, coagulation, and IL-6/JAK/STAT3 signaling were enriched during VOEs 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 during VOEs. We then analyzed the expression changes of genes in patients with longitudinal data to determine potential biomarkers for VOEs. Expression of 4 genes - FAM20A, IL1B, MS4A4A, and SERPINB2 - was elevated during VOEs compared with steady state in the majority of patients. Furthermore, our results indicate that patients experiencing chronic pain exhibited 44% increased enrichment of significant pathways during VOEs when compared with patients without chronic pain.

Indexed as

Anemia, Sickle CellVaso-Occlusive CrisesAdultBiomarkersFemaleGene Expression ProfilingHumansInterleukin-1betaMaleSignal TransductionTranscriptomeYoung AdultBiomarkersInterleukin-1betaBiomarkersExpression profilingHematologyInflammationPain

Identifiers

PMID41797711
PMCPMC13041688

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.