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Record W7117579289 · doi:10.1186/s13073-025-01574-x

Single-cell RNA-seq analysis of longitudinal CD4+ T cell samples reveals cell-type-specific changes during early stages of type 1 diabetes

2025· article· en· W7117579289 on OpenAlexfundno aff
Rahul Biradar, Ubaid Ullah, Tapio Lönnberg, Sini Junttila, Suomi Tomi, Sebastián Zúñiga Norman, Inna Starskaia, Niklas Paulin, Lea Mikkola, Outi Vaarala, Omid Rasool, M Knip, Laura Elo, Riitta Lahesmaa

Bibliographic record

VenueGenome Medicine · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicDiabetes and associated disorders
Canadian institutionsnot available
FundersNational Institute of Child Health and Human DevelopmentNational Institute of Diabetes and Digestive and Kidney DiseasesEuropean Research CouncilBiocenter FinlandCanadian Institutes of Health ResearchJane ja Aatos Erkon SäätiöChina Scholarship CouncilNational Institutes of HealthNovo NordiskAcademy of FinlandNovo Nordisk FondenTurun YliopistoEuropean Foundation for the Study of DiabetesEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentEuropean Commission
KeywordsType 1 diabetesImmune systemHuman geneticsDiabetes mellitusGeneTranscription factorTranscription (linguistics)T cellAutoimmunity

Abstract

fetched live from OpenAlex

BACKGROUND: T cells play a pivotal role in the autoimmune destruction of beta cells in type 1 diabetes. However, our understanding of the disease has been limited by lack of a comprehensive single-cell transcriptome analysis of T cells during its early stages. METHODS: T cell samples collected at an early age of 3-24 months from children who subsequently developed type 1 diabetes (N = 11) and their matched controls (N = 11). The samples analysed here were at or before the age of seroconversion, i.e., appearance of beta cell specific autoantibodies. These samples were obtained from the Trial to Reduce Insulin Dependent Diabetes Mellitus (IDDM) in Genetically at Risk (TRIGR) study (ClincalTrials.gov ID: NCT00179777). RESULTS: By phenotypically characterizing over 99,000 cells, we identified cell-type-specific gene expression patterns associated with disease progression. While the cell-type compositions were similar, several genes were differentially regulated in cases in different cell types. Besides pathways altered in cases in specific cell types, interferon related pathways and pathways related to viral response were altered in multiple cell types in cases. We also identified gene regulatory networks (regulon) that drives the transcriptional state of the cell types. Notably, we observed increased PRDM1 regulon activity in Th17 cells and diminished GATA3 regulon activity in naïve T cells, among other changes in the activity of different regulons in children progressing to disease. CONCLUSIONS: Our findings reveal early, cell-type-specific changes in transcription and gene regulatory networks in CD4⁺ T cells associated with type 1 diabetes progression, highlighting key pathways and transcriptional regulators. These insights provide a foundation for understanding early immune dysregulation in type 1 diabetes and basis for strategies to develop early diagnosis and intervention.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.061
Threshold uncertainty score0.744

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.015
GPT teacher head0.230
Teacher spread0.215 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2025
Admission routes1
Has abstractyes

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