Evidence map›Paper›PMID 24210274›Full record

ArticleJournal of autoimmunity2014

DNA methylation profiles in type 1 diabetes twins point to strong epigenetic effects on etiology.

Mihaela Stefan, Weijia Zhang, Erlinda Concepcion, Zhengzi Yi, Yaron Tomer

Open access · greenAbstract read
In one paragraph

Article in Journal of autoimmunity, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 1 pooled it
13.0field-weighted citation impact, top 1% 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

67 citing papers in PubMed, 1 synthesis or guideline pooled it, 151 citations in OpenAlex.

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7 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

5 authors at 1 institution in 1 country.

Mihaela StefanDivision of Endocrinology, Mount Sinai School of Medicine, New York, NY 10029, USA; James J. Peters Veterans Administration Medical Center, Bronx, NY 10468, USA.
Weijia ZhangDepartment of Medicine Bioinformatics Core, Mount Sinai School of Medicine, New York, NY 10029, USA.
Erlinda ConcepcionDivision of Endocrinology, Mount Sinai School of Medicine, New York, NY 10029, USA.
Zhengzi YiDepartment of Medicine Bioinformatics Core, Mount Sinai School of Medicine, New York, NY 10029, USA.
Yaron TomerDivision of Endocrinology, Mount Sinai School of Medicine, New York, NY 10029, USA; James J. Peters Veterans Administration Medical Center, Bronx, NY 10468, USA. Electronic address: Yaron.Tomer@mssm.edu.
Icahn School of Medicine at Mount Sinai · US

Funding

Mapping Autoimmune Diabetes and Thyroiditis GenesR01DK067555 · NIDDK · UNIVERSITY OF CINCINNATI · PI MIHAELA STEFAN LIFSHITZ, YARON TOMER · 2005 to 2026
$5.8M
Thyroid Derived Peptide Presentation by HLA-DR in ThyroiditisR01DK073681 · NIDDK · UNIVERSITY OF CINCINNATI · PI TOMER, YARON · 2006 to 2022
$5.0M
Identifying Genes Linked to Autoimmune Thyroid DiseasesR01DK061659 · NIDDK · UNIVERSITY OF CINCINNATI · PI TOMER, YARON · 2002 to 2017
$4.1M
Drug and Viral Induced Thyroiditis and DiabetesI01BX002031 · VA · JAMES J PETERS VA MEDICAL CENTER · PI TOMER, YARON · 2013 to 2015
–
BLRD VA I01 BX002031NIDDK NIH HHS DK061659NIDDK NIH HHS DK067555NIDDK NIH HHS DK073681NIDDK NIH HHS R01 DK061659NIDDK NIH HHS R01 DK067555NIDDK NIH HHS R01 DK073681
6 · The paper itself

Abstract

Type 1 diabetes (T1D) shows ∼40% concordance rate in monozygotic twins (MZ) suggesting a role for environmental factors and/or epigenetic modifications in the etiology of the disease. The aim of our study was to dissect the contribution of epigenetic factors, particularly, DNA methylation (DNAm), to the incomplete penetrance of T1D. We performed DNAm profiling in lymphocyte cell lines from 3 monozygotic (MZ) twin pairs discordant for T1D and 6 MZ twin pairs concordant for the disease using HumanMethylation27 BeadChip. This assay assesses the methylation state of 27,578 CpG sites, mostly located within proximal promoter regions. We identified 88 CpG sites displaying significant methylation changes in all T1D-discordant MZ twin pairs. Functional annotation of the genes with distinct CpG methylation profiles in T1D samples showed differential DNAm of immune response and defense response pathways between affected and unaffected twins. Integration of DNAm data with GWAS data mapped several known T1D associated genes, HLA, INS, IL-2RB, CD226, which showed significant differences in DNAm between affected and unaffected of twins. Our findings suggest that abnormalities of DNA methylation patterns, known to regulate gene transcription, may be involved in the pathogenesis of T1D.

Indexed as

DNA MethylationEpigenesis, GeneticGenetic Predisposition to DiseaseAdolescentAntigens, Differentiation, T-LymphocyteChildChild, PreschoolCpG IslandsDiabetes Mellitus, Type 1FemaleGene Expression ProfilingHLA AntigensHumansInfantInterleukin-2 Receptor beta SubunitMaleAntigens, Differentiation, T-LymphocyteHLA AntigensInterleukin-2 Receptor beta SubunitT Lineage-Specific Activation Antigen 1DNA methylationMonozygotic twinsTranscriptional regulationType 1 diabetes

Identifiers

PMID24210274
PMCPMC3995844
OpenAlexW2146152969

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

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 Socratic graph.