rss
Thorax 2008;63:894-896 doi:10.1136/thx.2007.094060
  • Sarcoidosis

Heredity in sarcoidosis: a registry-based twin study

  1. A Sverrild1,
  2. V Backer1,
  3. K O Kyvik2,
  4. J Kaprio3,
  5. N Milman4,
  6. C B Svendsen5,
  7. S F Thomsen1
  1. 1
    Department of Respiratory Medicine, Bispebjerg University Hospital, Copenhagen, Denmark
  2. 2
    Institute of Regional Health Research Services and The Danish Twin Registry, University of Southern Denmark, Odense, Denmark
  3. 3
    The Finnish Twin Cohort Study, Department of Public Health, University of Helsinki, Helsinki, Finland and Department of Mental Health and Alcohol Research, National Public Health Institute, Helsinki, Finland
  4. 4
    The Heart Centre, Department of Lung Transplantation, Rigshospitalet, Copenhagen, Denmark
  5. 5
    Department of Bacteriology, Mycology and Parasitology, Statens Serum Institut, Copenhagen, Denmark
  1. Dr A Sverrild, Department of Respiratory Medicine, Bispebjerg Hospital, DK-2400 Copenhagen NV, Denmark; asgersverrild{at}stud.ku.dk
  • Received 28 November 2007
  • Accepted 23 April 2008
  • Published Online First 5 June 2008

Abstract

Background: Sarcoidosis is a multiorgan granulomatous inflammatory disease of unknown aetiology. Familial clustering of cases and ethnic variation in the epidemiology suggests a genetic influence on susceptibility to the disease. This paper reports twin concordance and heritability estimates of sarcoidosis in order to assess the overall contribution of genetic factors to the disease susceptibility.

Methods: Monozygotic and dizygotic twins enrolled in the Danish and the Finnish population-based national twin cohorts (61 662 pairs in total) were linked to diagnostic information on sarcoidosis obtained from the Danish National Patient Registry or the Social Insurance Institution, Finland registry of reimbursed medication using the 8th and 10th editions of the International Classification of Diseases. The Fisher exact test was used to compare probandwise concordance rates in different zygosity groups. Heritability was estimated based on a multifactorial threshold liability model.

Results: A total of 210 twin pairs with at least one proband with a diagnosis of sarcoidosis were identified. The probandwise concordance rate was higher in monozygotic than in dizygotic twins (0.148 vs 0.012). Compared with the general population there was an 80-fold increased risk of developing sarcoidosis in co-twins of affected monozygotic brothers or sisters. The increased risk in dizygotic twins was only 7-fold. Aetiological model fitting gave a heritability of sarcoidosis of 0.66 (95% CI 0.45 to 0.80).

Conclusions: This study suggests that genetic factors play an important role in the susceptibility to sarcoidosis. This result should encourage the search for molecular genetic markers of susceptibility to the disease.

Footnotes

  • Funding: The Finnish Twin Cohort is supported by the Academy of Finland Centre of Excellence in Complex Disease Genetics.

  • Competing interests: None.

This Article

  1. Abstract
  2. Full text
  3. PDF
  4. All Versions of this Article:
    1. thx.2007.094060v1
    2. 63/10/894 most recent

Social bookmarking

Register for free content


Free sample
 This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of Thorax.
View free sample issue >>

Free archive
The full back archive is now available for Thorax. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006, back to volume 1 issue 1.
Register to access the free archive >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.