Evidence map›Paper›PMID 29039147›Full record

ArticleEndocrine2017

Heritability of Addison's disease and prevalence of associated autoimmunity in a cohort of 112,100 Swedish twins.

Jakob Skov, Jonas Höijer, Patrik K E Magnusson, Jonas F Ludvigsson, Olle Kämpe, Sophie Bensing

Open access · hybridAbstract readTwin Study
In one paragraph

Article in Endocrine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 12% 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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.

  1. Pooled it
  2. Review
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  8. Article
  9. Adrenal insufficiency.Nature reviews. Disease primers · 2021
    Review
  10. Article
  11. Article
  12. Article
  13. Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults.Journal of endocrinological investigation · 2019
    Review
  14. Article
  15. Article
  16. Article
  17. Review
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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 1 institution in 1 country.

Jakob SkovDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 17176, Stockholm, Sweden. jakob.skov@liv.se.ORCID http://orcid.org/0000-0002-3738-1367
Jonas HöijerInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Patrik K E MagnussonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jonas F LudvigssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Olle KämpeCenter for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.
Sophie BensingDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 17176, Stockholm, Sweden.
Karolinska Institutet · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe pathophysiology behind autoimmune Addison's disease (AAD) is poorly understood, and the relative influence of genetic and environmental factors remains unclear. In this study, we examined the heritability of AAD and explored disease-associated autoimmune comorbidity among Swedish twins.

methodsA population-based longitudinal cohort of 112,100 Swedish twins was used to calculate the heritability of AAD, and to explore co-occurrence of 10 organ-specific autoimmune disorders in twin pairs with AAD. Diagnoses were collected 1964-2012 through linkage to the Swedish National Patient Register. The Swedish Prescribed Drug Register was used for additional diagnostic precision. When available, biobank serum samples were used to ascertain the AAD diagnosis through identification of 21-hydroxylase autoantibodies.

resultsWe identified 29 twins with AAD. Five out of nine (5/9) monozygotic pairs and zero out of fifteen (0/15) dizygotic pairs were concordant for AAD. The probandwise concordance for monozygotic twins was 0.71 (95% CI 0.40-0.90) and the heritability 0.97 (95% CI 0.88-99). Autoimmune disease patterns of monozygotic twin pairs affected by AAD displayed a higher degree of similarity than those of dizygotic twins, with an incidence rate ratio of 15 (95% CI 1.8-116) on the number of shared autoimmune diagnoses within pairs.

conclusionsThe heritability of AAD appears to be very high, emphasizing the need for further research on the genetic etiology of the disease. Monozygotic twin concordance for multiple autoimmune manifestations suggests strong genetic influence on disease specificity in organ-specific autoimmunity.

Indexed as

Addison DiseaseAdolescentAdultAgedAutoimmune DiseasesChildCloning, MolecularCohort StudiesDNA, ComplementaryFemaleGenetic Predisposition to DiseaseHumansLongitudinal StudiesMaleMiddle AgedPrevalenceDNA, ComplementaryAddison’s diseaseAutoimmunityHeritabilityPolyglandularRegistriesTwins

Identifiers

PMID29039147
PMCPMC5693969
OpenAlexW2766050010

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.