Evidence map›Paper›PMID 11507694›Full record

ArticleAmerican journal of human genetics2001

Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families.

N J Cox, B Wapelhorst, V A Morrison, L Johnson, L Pinchuk, R S Spielman, J A Todd, P Concannon

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 1 pooled it
18.0field-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

58 citing papers in PubMed, 1 synthesis or guideline pooled it, 263 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Risk factors and primary prevention trials for type 1 diabetes.International journal of biological sciences · 2013
    Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Approaches in type 1 diabetes research: A status report.International journal of diabetes in developing countries · 2009
    Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Genetics of autoimmune diabetes mellitus.Wiener medizinische Wochenschrift (1946) · 2008
    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

8 authors at 4 institutions in 2 countries.

N J CoxDepartment of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
B Wapelhorst
V A Morrison
L Johnson
L Pinchuk
R S Spielman
J A Todd
P Concannon
Virginia Mason Medical Center · USJuvenile Diabetes Research Foundation · GBUniversity of Chicago · USUniversity of Pennsylvania · US

Funding

CONSORTIUM LINKAGE STUDIES OF TYPE 2 DIABETESU01DK058026 · NIDDK · UNIVERSITY OF CHICAGO · PI COX, NANCY J. · 1999 to 2004
$7.5M
SUSCEPTIBILITY GENES IN TYPE I DIABETESR01DK046635 · NIDDK · UNIVERSITY OF VIRGINIA · PI CONCANNON, PATRICK · 1993 to 2013
$5.4M
Robust Methods for Indentifying Genes for Complex TraitsR01DK055889 · NIDDK · UNIVERSITY OF CHICAGO · PI COX, NANCY J. · 1998 to 2004
$1.3M
IMMUNOLOGICAL CANDIDATE GENES FOR IDDM SUSCEPTIBILITYR01DK055970 · NIDDK · BENAROYA RESEARCH INST AT VIRGINIA MASON · PI CONCANNON, PATRICK · 1998 to 2000
$209k
NIDDK NIH HHS DK46635NIDDK NIH HHS DK55889NIDDK NIH HHS DK55970NIDDK NIH HHS DK58026NIDDK NIH HHS R01 DK046635NIDDK NIH HHS R01 DK055889NIDDK NIH HHS U01 DK058026Wellcome Trust
6 · The paper itself

Abstract

Type 1 diabetes (T1D) is a genetically complex disorder of glucose homeostasis that results from the autoimmune destruction of the insulin-secreting cells of the pancreas. Two previous whole-genome scans for linkage to T1D in 187 and 356 families containing affected sib pairs (ASPs) yielded apparently conflicting results, despite partial overlap in the families analyzed. However, each of these studies individually lacked power to detect loci with locus-specific disease prevalence/sib-risk ratios (lambda(s)) <1.4. In the present study, a third genome scan was performed using a new collection of 225 multiplex families with T1D, and the data from all three of these genome scans were merged and analyzed jointly. The combined sample of 831 ASPs, all with both parents genotyped, provided 90% power to detect linkage for loci with lambda(s) = 1.3 at P=7.4x10(-4). Three chromosome regions were identified that showed significant evidence of linkage (P<2.2x10(-5); LOD scores >4), 6p21 (IDDM1), 11p15 (IDDM2), 16q22-q24, and four more that showed suggestive evidence (P<7.4x10(-4), LOD scores > or =2.2), 10p11 (IDDM10), 2q31 (IDDM7, IDDM12, and IDDM13), 6q21 (IDDM15), and 1q42. Exploratory analyses, taking into account the presence of specific high-risk HLA genotypes or affected sibs' ages at disease onset, provided evidence of linkage at several additional sites, including the putative IDDM8 locus on chromosome 6q27. Our results indicate that much of the difficulty in mapping T1D susceptibility genes results from inadequate sample sizes, and the results point to the value of future international collaborations to assemble and analyze much larger data sets for linkage in complex diseases.

Indexed as

AdolescentAdultAge of OnsetAgingChildChromosome MappingChromosomes, HumanDiabetes Mellitus, Type 1Genetic LinkageGenetic Predisposition to DiseaseGenome, HumanGenotypeHLA AntigensHumansLod ScoreNuclear FamilyHLA Antigens

Identifiers

PMID11507694
PMCPMC1226067
OpenAlexW2101899025

What OpenQuestion holds

Textmetadata
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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.