Evidence map›Paper›PMID 17029885›Full record

ArticleJournal of autoimmunity2006

Incomplete penetrance of susceptibility genes for MHC-determined immunoglobulin deficiencies in monozygotic twins discordant for type 1 diabetes.

Chester A Alper, Zaheed Husain, Charles E Larsen, Devendra P Dubey, Rosanne Stein, Caitlin Day, Alissa Baker, Huriya Beyan, Mohammed Hawa, Thomas O Ola and 1 more

Open access · greenAbstract readTwin Study
In one paragraph

Article in Journal of autoimmunity, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
3.9field-weighted citation impact, top 6% 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

16 citing papers in PubMed, 36 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Article
  6. Beyond Genetics: What Causes Type 1 Diabetes.Clinical reviews in allergy & immunology · 2017
    Review
  7. Review
  8. Review
  9. Pediatric angioedema.Clinical reviews in allergy & immunology · 2008
    Review
  10. Whither autoimmunity: the lessons of anti-CCP and B cell depletion.Clinical reviews in allergy & immunology · 2008
    Article
  11. Dermal immunopathology: from genetics to effector mechanisms.Clinical reviews in allergy & immunology · 2007
    Article
  12. Article
  13. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.The journal of allergy and clinical immunology. In practice
    Article
  14. Article
  15. Review
  16. 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

11 authors at 3 institutions in 2 countries.

Chester A AlperThe CBR Institute for Biomedical Research, Harvard Medical School, 800 Huntington Avenue, Boston, MA 02115, USA. alper@cbr.med.harvard. edu
Zaheed Husain
Charles E Larsen
Devendra P Dubey
Rosanne Stein
Caitlin Day
Alissa Baker
Huriya Beyan
Mohammed Hawa
Thomas O Ola
R David Leslie
Harvard University · USSt Bartholomew's Hospital · GBBaim Institute for Clinical Research · US

Funding

STUDIES OF NK AND T CELLS IN RELATION TO THE MAJOR HISTOCOMPATIBILITY COMPLEXP01HL029583 · NHLBI · IMMUNE DISEASE INSTITUTE, INC. · PI LARSEN, CHARLES E · 1985 to 2005
$9.8M
NHLBI NIH HHS HL29583NHLBI NIH HHS P01 HL029583NHLBI NIH HHS P01 HL029583-20NHLBI NIH HHS P01 HL029583-200007NHLBI NIH HHS P01 HL029583-200009
6 · The paper itself

Abstract

Incomplete intrinsic penetrance is the failure of some genetically susceptible individuals (e.g., monozygotic twins of those who have a trait) to exhibit that trait. For the first time, we examine penetrance of susceptibility genes for multiple MHC gene-determined traits in the same subjects. Serum levels of IgA, IgD, IgG3, but not IgG4, in 50 pairs of monozygotic twins discordant for type 1 diabetes (T1D) correlated more closely in the twins than in random paired controls. The frequencies of subjects deficient in IgA (6%), IgD (33%) and IgG4 (12%), but not in IgG3, were higher in the twins than in controls. We postulate that this was because the MHC haplotypes (and possible non-MHC genes) that predispose to T1D also carry susceptibility genes for certain immunoglobulin deficiencies. Immunoglobulin deficiencies were not associated with T1D. Pairwise concordance for the deficiencies in the twins was 50% for IgA, 57% for IgD and 50% for IgG4. There were no significant associations among the specific immunoglobulin deficiencies except that all IgA-deficient subjects had IgD deficiency. Thus, intrinsic penetrance is a random process independently affecting different MHC susceptibility genes. Because multiple different external triggers would be required to explain the results, differential environmental determinants appear unlikely.

Indexed as

Genetic Predisposition to DiseasePenetranceDiabetes Mellitus, Type 1Enzyme-Linked Immunosorbent AssayHumansImmunoglobulin AImmunoglobulin DImmunoglobulin GImmunoglobulinsMajor Histocompatibility ComplexImmunoglobulin AImmunoglobulin DImmunoglobulin GImmunoglobulins

Identifiers

PMID17029885
PMCPMC1810396
OpenAlexW2145761970

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.