Evidence map›Paper›PMID 28248954›Full record

ArticlePLoS genetics2017

Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells.

Silva Kasela, Kai Kisand, Liina Tserel, Epp Kaleviste, Anu Remm, Krista Fischer, Tõnu Esko, Harm-Jan Westra, Benjamin P Fairfax, Seiko Makino and 5 more

Abstract readComparative Study
In one paragraph

Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 7 pooled it
–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

72 citing papers in PubMed, 7 syntheses or guidelines pooled it.

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  11. Genetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025
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12 more citing papers are in PubMed but not listed here.

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

15 authors.

Silva KaselaEstonian Genome Center, University of Tartu, Tartu, Estonia.
Kai KisandInstitute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-5426-4648
Liina TserelInstitute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Epp KalevisteInstitute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0003-4528-3406
Anu RemmInstitute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Krista FischerEstonian Genome Center, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-3521-0599
Tõnu EskoEstonian Genome Center, University of Tartu, Tartu, Estonia.
Harm-Jan WestraDivisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States of America.ORCID http://orcid.org/0000-0001-7038-567X
Benjamin P FairfaxWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Seiko MakinoWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Julian C KnightWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Lude FrankeDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu, Estonia.
Pärt PetersonInstitute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Lili MilaniEstonian Genome Center, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-5323-3102

Funding

Wellcome Trust 074318Wellcome Trust 201488/Z/16/Z
6 · The paper itself

Abstract

Inappropriate activation or inadequate regulation of CD4+ and CD8+ T cells may contribute to the initiation and progression of multiple autoimmune and inflammatory diseases. Studies on disease-associated genetic polymorphisms have highlighted the importance of biological context for many regulatory variants, which is particularly relevant in understanding the genetic regulation of the immune system and its cellular phenotypes. Here we show cell type-specific regulation of transcript levels of genes associated with several autoimmune diseases in CD4+ and CD8+ T cells including a trans-acting regulatory locus at chr12q13.2 containing the rs1131017 SNP in the RPS26 gene. Most remarkably, we identify a common missense variant in IL27, associated with type 1 diabetes that results in decreased functional activity of the protein and reduced expression levels of downstream IRF1 and STAT1 in CD4+ T cells only. Altogether, our results indicate that eQTL mapping in purified T cells provides novel functional insights into polymorphisms and pathways associated with autoimmune diseases.

Indexed as

Autoimmune DiseasesCD4-Positive T-LymphocytesCD8-Positive T-LymphocytesChromosome MappingDiabetes Mellitus, Type 1Gene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHEK293 CellsHumansInterferon Regulatory Factor-1Interleukin-27MutationPolymorphism, Single NucleotideQuantitative Trait LociInterferon Regulatory Factor-1Interleukin-27IRF1 protein, humanRibosomal ProteinsRPS26 protein, humanSTAT1 protein, humanSTAT1 Transcription Factor

Identifiers

PMID28248954
PMCPMC5352142

What OpenQuestion holds

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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.