Evidence map›Paper›PMID 33936046›Full record

ArticleFrontiers in immunology2021

Variant to Gene Mapping to Discover New Targets for Immune Tolerance.

Parul Mehra, Andrew D Wells

Open access · goldAbstract read
In one paragraph

Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 24% of its field
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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

2 authors at 2 institutions in 1 country.

Parul MehraDepartment of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Andrew D WellsDepartment of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · US

Funding

Functional Mechanisms of T1D Risk Variants and their Target Genes using 3D Epigenomics and Single Cell ApproachesR01DK122586 · NIDDK · UNIVERSITY OF VIRGINIA · PI GRANT, STRUAN F A, RICH, STEPHEN S. · 2019 to 2022
$4.8M
Mechanisms of autoimmune disease risk in IL2/IL2RA-dependent immune toleranceR01AI154773 · NIAID · CHILDREN'S HOSP OF PHILADELPHIA · PI CAMPBELL, DANIEL J, WELLS, ANDREW D · 2021 to 2025
$3.8M
NIAID NIH HHS R01 AI154773NIDDK NIH HHS R01 DK122586
6 · The paper itself

Abstract

The breakdown of immunological tolerance leads to autoimmune disease, and the mechanisms that maintain self-tolerance, especially in humans, are not fully understood. Genome-wide association studies (GWAS) have identified hundreds of human genetic loci statistically linked to autoimmune disease risk, and epigenetic modifications of DNA and chromatin at these loci have been associated with autoimmune disease risk. Because the vast majority of these signals are located far from genes, identifying causal variants, and their functional consequences on the correct effector genes, has been challenging. These limitations have hampered the translation of GWAS findings into novel drug targets and clinical interventions, but recent advances in understanding the spatial organization of the genome in the nucleus have offered mechanistic insights into gene regulation and answers to questions left open by GWAS. Here we discuss the potential for 'variant-to-gene mapping' approaches that integrate GWAS with 3D functional genomic data to identify human genes involved in the maintenance of tolerance.

Indexed as

Genetic VariationGenome-Wide Association StudyImmune ToleranceAutoimmune DiseasesChromosome MappingGene Expression RegulationGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideQuantitative Trait Lociautoimmunitygenome-wide association studiesimmune tolerancemulti-omicssingle nucleotide polymorphismvariant-to-gene mapping

Identifiers

PMID33936046
PMCPMC8082446
OpenAlexW3153021963

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.