Evidence map›Paper›PMID 37962983›Full record

SynthesisThe Journal of clinical endocrinology and metabolism2024

Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease.

Nicole Lafontaine, Christopher J Shore, Purdey J Campbell, Benjamin H Mullin, Suzanne J Brown, Vijay Panicker, Frank Dudbridge, Thomas H Brix, Laszlo Hegedüs, Scott G Wilson and 2 more

Open access · hybridAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 2 pooled it
1.3field-weighted citation impact, top 16% 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

5 citing papers in PubMed, 2 syntheses or guidelines pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Review
  5. 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

12 authors at 5 institutions in 3 countries.

Nicole LafontaineDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.ORCID 0000-0001-7101-2058
Christopher J ShoreDepartment of Twin Research & Genetic Epidemiology, King's College London, London, SE1 7EH, UK.ORCID 0000-0002-9781-1015
Purdey J CampbellDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.ORCID 0000-0002-5727-4323
Benjamin H MullinDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.ORCID 0000-0003-0743-770X
Suzanne J BrownDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.ORCID 0000-0002-8413-561X
Vijay PanickerDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.ORCID 0000-0003-1551-8411
Frank DudbridgePopulation Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.ORCID 0000-0002-8817-8908
Thomas H BrixDepartment of Endocrinology and Metabolism, Odense University Hospital, Odense, 5000, Denmark.ORCID 0000-0002-2327-531X
Laszlo HegedüsDepartment of Endocrinology and Metabolism, Odense University Hospital, Odense, 5000, Denmark.ORCID 0000-0002-9691-7619
Scott G WilsonDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.ORCID 0000-0002-0357-1373
Jordana T BellDepartment of Twin Research & Genetic Epidemiology, King's College London, London, SE1 7EH, UK.ORCID 0000-0002-3858-5986
John P WalshDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.ORCID 0000-0002-1766-2612
The University of Western Australia · AUKing's College London · GBOdense University Hospital · DKSir Charles Gairdner Hospital · AUUniversity of Leicester · GB

Funding

Australian National Health and Medical Research Council 1087407
6 · The paper itself

Abstract

contextAutoimmune thyroid disease (AITD) includes Graves disease (GD) and Hashimoto disease (HD), which often run in the same family. AITD etiology is incompletely understood: Genetic factors may account for up to 75% of phenotypic variance, whereas epigenetic effects (including DNA methylation [DNAm]) may contribute to the remaining variance (eg, why some individuals develop GD and others HD).

objectiveThis work aimed to identify differentially methylated positions (DMPs) and differentially methylated regions (DMRs) comparing GD to HD.

methodsWhole-blood DNAm was measured across the genome using the Infinium MethylationEPIC array in 32 Australian patients with GD and 30 with HD (discovery cohort) and 32 Danish patients with GD and 32 with HD (replication cohort). Linear mixed models were used to test for differences in quantile-normalized β values of DNAm between GD and HD and data were later meta-analyzed. Comb-p software was used to identify DMRs.

resultsWe identified epigenome-wide significant differences (P < 9E-8) and replicated (P < .05) 2 DMPs between GD and HD (cg06315208 within MDC1 and cg00049440 within KLF9). We identified and replicated a DMR within CUTA (5 CpGs at 6p21.32). We also identified 64 DMPs and 137 DMRs in the meta-analysis.

conclusionOur study reveals differences in DNAm between GD and HD, which may help explain why some people develop GD and others HD and provide a link to environmental risk factors. Additional research is needed to advance understanding of the role of DNAm in AITD and investigate its prognostic and therapeutic potential.

Indexed as

Graves DiseaseHashimoto DiseaseAdaptor Proteins, Signal TransducingAustraliaCell Cycle ProteinsDNA MethylationEpigenesis, GeneticEpigenomeHumansKruppel-Like Transcription FactorsMembrane ProteinsAdaptor Proteins, Signal TransducingCell Cycle ProteinsCUTA protein, humanKLF9 protein, humanKruppel-Like Transcription FactorsMDC1 protein, humanMembrane ProteinsDNA methylationepigenomeGraves diseaseHashimoto disease

Identifiers

PMID37962983
PMCPMC10940258
OpenAlexW4388667178

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.