Evidence map›Paper›PMID 18647951›Full record

ArticleDiabetes2008

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3.

Patrick Concannon, Suna Onengut-Gumuscu, John A Todd, Deborah J Smyth, Flemming Pociot, Regine Bergholdt, Beena Akolkar, Henry A Erlich, Joan E Hilner, Cécile Julier and 6 more

Open access · hybridAbstract read
In one paragraph

Article in Diabetes, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 3 pooled it
8.4field-weighted citation impact, top 2% 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

75 citing papers in PubMed, 3 syntheses or guidelines pooled it, 130 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Type 1 Diabetes Genetics Consortium.The Journal of clinical endocrinology and metabolism · 2025
    Review
  10. Review
  11. Review
  12. Article
  13. Genetics of diabetes.World journal of diabetes · 2023
    Review
  14. TULA Proteins in Men, Mice, Hens, and Lice: Welcome to the Family.International journal of molecular sciences · 2023
    Review
  15. UBASH3A Interacts with PTPN22 to RegulateInternational journal of molecular sciences · 2023
    Article
  16. Article
  17. The missing heritability in type 1 diabetes.Diabetes, obesity & metabolism · 2022
    Review
  18. Review
  19. Review
  20. Article

15 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

16 authors at 9 institutions in 5 countries.

Patrick ConcannonDepartment of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, USA. pjc6n@virginia.edu
Suna Onengut-Gumuscu
John A Todd
Deborah J Smyth
Flemming Pociot
Regine Bergholdt
Beena Akolkar
Henry A Erlich
Joan E Hilner
Cécile Julier
Grant Morahan
Jørn Nerup
Concepcion R Nierras
Wei-Min Chen
Stephen S Rich
Type 1 Diabetes Genetics Consortium
University of Virginia · USSteno Diabetes Centers · DKUniversity of Cambridge · GBBreakthrough T1D · USInserm · FRMaterials Systems (United States) · USNational Institutes of Health · USThe University of Western Australia · AUWake Forest University · US

Funding

Type 1 Diabetes Genetics ConsortiumU01DK062418 · NIDDK · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI RICH, STEPHEN S. · 2002 to 2007
$59.8M
SUSCEPTIBILITY GENES IN TYPE I DIABETESR01DK046635 · NIDDK · UNIVERSITY OF VIRGINIA · PI CONCANNON, PATRICK · 1993 to 2013
$5.4M
Medical Research Council G0000934NIDDK NIH HHS DK46635NIDDK NIH HHS R01 DK046635NIDDK NIH HHS U01 DK062418Wellcome Trust
6 · The paper itself

Abstract

objectiveThe Type 1 Diabetes Genetics Consortium (T1DGC) has assembled and genotyped a large collection of multiplex families for the purpose of mapping genomic regions linked to type 1 diabetes. In the current study, we tested for evidence of loci associated with type 1 diabetes utilizing genome-wide linkage scan data and family-based association methods. RESEARCH DESIGN AND

methodsA total of 2,496 multiplex families with type 1 diabetes were genotyped with a panel of 6,090 single nucleotide polymorphisms (SNPs). Evidence of association to disease was evaluated by the pedigree disequilibrium test. Significant results were followed up by genotyping and analyses in two independent sets of samples: 2,214 parent-affected child trio families and a panel of 7,721 case and 9,679 control subjects. RESULTS- Three of the SNPs most strongly associated with type 1 diabetes localized to previously identified type 1 diabetes risk loci: INS, IFIH1, and KIAA0350. A fourth strongly associated SNP, rs876498 (P = 1.0 x 10(-4)), occurred in the sixth intron of the UBASH3A locus at chromosome 21q22.3. Support for this disease association was obtained in two additional independent sample sets: families with type 1 diabetes (odds ratio [OR] 1.06 [95% CI 1.00-1.11]; P = 0.023) and case and control subjects (1.14 [1.09-1.19]; P = 7.5 x 10(-8)).

conclusionsThe T1DGC 6K SNP scan and follow-up studies reported here confirm previously reported type 1 diabetes associations at INS, IFIH1, and KIAA0350 and identify an additional disease association on chromosome 21q22.3 in the UBASH3A locus (OR 1.10 [95% CI 1.07-1.13]; P = 4.4 x 10(-12)). This gene and its flanking regions are now validated targets for further resequencing, genotyping, and functional studies in type 1 diabetes.

Indexed as

Chromosome MappingChromosomes, Human, Pair 21Diabetes Mellitus, Type 1Genetic Predisposition to DiseaseGenotypeHumansPolymorphism, Single Nucleotide

Identifiers

PMID18647951
PMCPMC2551699
OpenAlexW2156619641

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.