Evidence map›Paper›PMID 19141582›Full record

ArticleThe Journal of clinical endocrinology and metabolism2009

Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families.

Maria Justina B Villano, Amanda K Huber, David A Greenberg, Brian K Golden, Erlinda Concepcion, Yaron Tomer

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
6.3field-weighted citation impact, top 3% 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

32 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. The NOD Mouse Beyond Autoimmune Diabetes.Frontiers in immunology · 2022
    Review
  8. Review
  9. Article
  10. Article
  11. Review
  12. Central-European journal of immunology · 2020
    Article
  13. Review
  14. Review
  15. Article
  16. Hypothyroidism among pediatric patients with type 1 diabetes mellitus, from patients' characteristics to disease severity.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2017
    Article
  17. Article
  18. Article
  19. Review
  20. 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

6 authors at 4 institutions in 1 country.

Maria Justina B VillanoDepartment of Internal Medicine, Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA.
Amanda K Huber
David A Greenberg
Brian K Golden
Erlinda Concepcion
Yaron Tomer
University of Cincinnati Medical Center · USColumbia University · USMedical Oncology Hematology Consultants · USVeterans Health Administration · US

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
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
PSYCHIATRIC GENETICS AND FAMILY STUDIES--ROBUST METHODSR01MH048858 · NIMH · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI HODGE, SUSAN E. · 1992 to 2010
$1.5M
TWO-LOCUS MODELS--HETEROGENEITY AND DIABETESR01DK031775 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GREENBERG, DAVID A. · 1987 to 2006
$1.1M
NIDDK NIH HHS DK067555NIDDK NIH HHS DK073681NIDDK NIH HHS DK31775NIDDK NIH HHS DK61659NIDDK NIH HHS R01 DK031775NIDDK NIH HHS R01 DK061659NIDDK NIH HHS R01 DK067555NIDDK NIH HHS R01 DK073681NIMH NIH HHS MH48858NIMH NIH HHS R01 MH048858NINDS NIH HHS NS27941NINDS NIH HHS R01 NS027941
6 · The paper itself

Abstract

contextEpidemiological data support a shared genetic susceptibility to autoimmune thyroid disease (AITD) and type 1 diabetes (T1D). Both diseases frequently occur within the same family and in the same individual. Patients developing both T1D and AITD are considered to have an autoimmune polyglandular syndrome type 3 variant (APS3v).

objectiveThe goals of this study were to identify the joint susceptibility loci/genes for T1D and AITD. SETTINGS: The study was conducted at an academic medical center. PARTICIPANTS AND

main outcome measuresWe used whole genome and candidate gene approaches in a data set of 88 families multiplex for T1D and AITD (448 individuals).

resultsWe identified three loci, on chromosomes 2p, 6p, and Xp, showing linkage when individuals with either T1D or AITD were classified as affected. The 6p locus contained the human leukocyte antigen class II genes, and the Xp locus contained the FOXP3 gene. Three loci, on 2q, 6p (human leukocyte antigen class II), and Xp, showed evidence for linkage when only APS3v individuals (T1D+AITD) were classified as affected. Analysis of positional candidate genes strongly supported CTLA-4 as the gene on 2q associated with APS3v and FOXP3 as the gene on Xp associated with T1D or AITD and APS3v. In addition, the PTPN22 and insulin variable number tandem repeat genes showed significant associations with T1D or AITD in our families.

conclusionsOur results demonstrate a strong shared genetic susceptibility to T1D and AITD, with most shared genes involved in immune regulation, suggesting that immune dysregulation plays an important role in the joint susceptibility to T1D and AITD.

Indexed as

Chromosomes, Human, Pair 2Chromosomes, Human, Pair 6Chromosomes, Human, XChromosome MappingCohort StudiesDiabetes Mellitus, Type 1FamilyFemaleForkhead Transcription FactorsGenetic Predisposition to DiseaseGenetic VariationHLA-D AntigensHumansLod ScoreMaleThyroiditis, AutoimmuneForkhead Transcription FactorsFOXP3 protein, humanHLA-D Antigens

Identifiers

PMID19141582
PMCPMC2682473
OpenAlexW2109220450

What OpenQuestion holds

Textmetadata
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.