Evidence map›Paper›PMID 23118423›Full record

ArticleThe Journal of clinical endocrinology and metabolism2013

Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes.

Yaron Tomer, Alia Hasham, Terry F Davies, Mihaela Stefan, Erlinda Concepcion, Mehdi Keddache, David A Greenberg

Abstract read
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 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

26 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Review
  6. Haematologica · 2023
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Clinical cancer research : an official journal of the American Association for Cancer Research · 2020
    Article
  12. Interaction of Genetic Variations inThyroid : official journal of the American Thyroid Association · 2019
    Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Review
  18. Review
  19. Article
  20. Genetic-epigenetic dysregulation of thymic TSH receptor gene expression triggers thyroid autoimmunity.Proceedings of the National Academy of Sciences of the United States of America · 2014
    Article
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.

Yaron TomerDepartment of Medicine, Division of Endocrinology, Mount Sinai School of Medicine, New York, New York 10029, USA. yaron.tomer@mssm.edu
Alia Hasham
Terry F Davies
Mihaela Stefan
Erlinda Concepcion
Mehdi Keddache
David A Greenberg

Funding

RESOLVING HETEROGENEITY IN EPILEPSY WITH GENETIC MARKERSR01NS027941 · NINDS · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GREENBERG, DAVID A. · 1990 to 2010
$9.0M
Mapping Autoimmune Diabetes and Thyroiditis GenesR01DK067555 · NIDDK · UNIVERSITY OF CINCINNATI · PI MIHAELA STEFAN LIFSHITZ, YARON TOMER · 2005 to 2026
$5.8M
Small Molecules and Antibodies Interacting at the TSH ReceptorR01DK069713 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DAVIES, TERRY FRANCIS · 2006 to 2019
$5.6M
Thyroid Derived Peptide Presentation by HLA-DR in ThyroiditisR01DK073681 · NIDDK · UNIVERSITY OF CINCINNATI · PI TOMER, YARON · 2006 to 2022
$5.0M
Mapping Autoimmune Phenotypes in Multiplex FamiliesR01AI068759 · NIAID · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI GREGERSEN, PETER K. · 2007 to 2011
$4.7M
Identifying Genes Linked to Autoimmune Thyroid DiseasesR01DK061659 · NIDDK · UNIVERSITY OF CINCINNATI · PI TOMER, YARON · 2002 to 2017
$4.1M
SUSCEPTIBILITY GENES IN AUTOIMMUNE THYROID DISEASER01DK052464 · NIDDK · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI DAVIES, TERRY FRANCIS · 1997 to 2013
$3.0M
TSH and BoneR01DK080459 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DAVIES, TERRY FRANCIS, SUN, LI · 2009 to 2013
$2.8M
PSYCHIATRIC GENETICS AND FAMILY STUDIES--ROBUST METHODSR01MH048858 · NIMH · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI HODGE, SUSAN E. · 1992 to 2010
$1.5M
NIAID NIH HHS R01 AI068759NIAID NIH HHS R01-AI-68759NIDDK NIH HHS DK052464NIDDK NIH HHS DK061659NIDDK NIH HHS DK067555NIDDK NIH HHS DK069713NIDDK NIH HHS DK080459NIDDK NIH HHS R01 DK052464NIDDK NIH HHS R01 DK061659NIDDK NIH HHS R01 DK067555NIDDK NIH HHS R01 DK069713NIDDK NIH HHS R01 DK073681NIDDK NIH HHS R01 DK080459NIMH NIH HHS MH48858NIMH NIH HHS R01 MH048858NINDS NIH HHS NS27941NINDS NIH HHS R01 NS027941PHS HHS NA61829
6 · The paper itself

Abstract

contextGenetic factors play a major role in the etiology of autoimmune thyroid disease (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT). We have previously identified three loci on chromosomes 10q, 12q, and 14q that showed strong linkage with AITD, HT, and GD, respectively.

objectivesThe objective of the study was to identify the AITD susceptibility genes at the 10q, 12q, and 14q loci. DESIGN AND

participantsThree hundred forty North American Caucasian AITD patients and 183 healthy controls were studied. The 10q, 12q, and 14q loci were fine mapped by genotyping densely spaced single-nucleotide polymorphisms (SNPs) using the Illumina GoldenGate genotyping platform. Case control association analyses were performed using the UNPHASED computer package. Associated SNPs were reanalyzed in a replication set consisting of 238 AITD patients and 276 controls.

resultsFine mapping of the AITD locus, 10q, showed replicated association of the AITD phenotype (both GD and HT) with SNP rs6479778. This SNP was located within the ARID5B gene recently reported to be associated with rheumatoid arthritis and GD in Japanese. Fine mapping of the GD locus, 14q, revealed replicated association of the GD phenotype with two markers, rs12147587 and rs2284720, located within the NRXN3 and TSHR genes, respectively.

conclusionsFine mapping of three linked loci identified novel susceptibility genes for AITD. The discoveries of new AITD susceptibility genes will engender a new understanding of AITD etiology.

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedAged, 80 and overAutoimmune DiseasesCase-Control StudiesChildChromosome MappingDNA-Binding ProteinsFemaleGenetic Association StudiesGenetic LociHumansMaleMiddle AgedARID5B protein, humanDNA-Binding ProteinsNerve Tissue Proteinsneurexin IIIalphaReceptors, ThyrotropinTranscription Factors

Identifiers

PMID23118423
PMCPMC3537111

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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.