Evidence map›Paper›PMID 38947339›Full record

ArticleFrontiers in immunology2024

Identification of functional enhancer variants associated with type I diabetes in CD4+ T cells.

Arpit Mishra, Ajay Jajodia, Eryn Weston, Naresh Doni Jayavelu, Mariana Garcia, Daniel Hossack, R David Hawkins

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

2 citing papers in PubMed.

  1. Review
  2. GM-CSFTheranostics · 2025
    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

7 authors.

Arpit Mishra *Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.
Ajay Jajodia *Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.
Eryn WestonDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.
Naresh Doni JayaveluDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.
Mariana GarciaDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.
Daniel HossackDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.
R David HawkinsDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.

Funding

Functional assessment of distal regulatory SNPs associated with type 1 diabetes.R01DK103667 · NIDDK · UNIVERSITY OF WASHINGTON · PI HAWKINS, RAYMOND DAVID · 2015 to 2019
$2.5M
NIDDK NIH HHS R01 DK103667
6 · The paper itself

Abstract

Type I diabetes is an autoimmune disease mediated by T-cell destruction of β cells in pancreatic islets. Currently, there is no known cure, and treatment consists of daily insulin injections. Genome-wide association studies and twin studies have indicated a strong genetic heritability for type I diabetes and implicated several genes. As most strongly associated variants are noncoding, there is still a lack of identification of functional and, therefore, likely causal variants. Given that many of these genetic variants reside in enhancer elements, we have tested 121 CD4+ T-cell enhancer variants associated with T1D. We found four to be functional through massively parallel reporter assays. Three of the enhancer variants weaken activity, while the fourth strengthens activity. We link these to their cognate genes using 3D genome architecture or eQTL data and validate them using CRISPR editing. Validated target genes include

Indexed as

CD4-Positive T-LymphocytesDiabetes Mellitus, Type 1Enhancer Elements, GeneticGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansLectins, C-TypePolymorphism, Single NucleotideQuantitative Trait LociSuppressor of Cytokine Signaling 1 ProteinLectins, C-TypeSOCS1 protein, humanSuppressor of Cytokine Signaling 1 Protein3D genome architectureenhancer elementsGWASmassively parallel reporter assay (MPRA)non-coding variantstype 1 diabetes

Identifiers

PMID38947339
PMCPMC11211866

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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.