SARCOIDOSIS

Heredity in sarcoidosis: a registry-based twin study

A Sverrild¹, V Backer¹, K O Kyvik², J Kaprio³, N Milman⁴, C B Svendsen⁵, S F Thomsen¹

¹ Department of Respiratory Medicine, Bispebjerg University Hospital, Copenhagen, Denmark
² Institute of Regional Health Research Services and The Danish Twin Registry, University of Southern Denmark, Odense, Denmark
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 The Heart Centre, Department of Lung Transplantation, Rigshospitalet, Copenhagen, Denmark
⁵ Department of Bacteriology, Mycology and Parasitology, Statens Serum Institut, Copenhagen, Denmark

Dr A Sverrild, Department of Respiratory Medicine, Bispebjerg Hospital, DK-2400 Copenhagen NV, Denmark; asgersverrild{at}stud.ku.dk

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.

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Dempsey, O. J, Paterson, E. W, Kerr, K. M, Denison, A. R (2009). Sarcoidosis. BMJ 339: b3206-b3206 [Full Text]