“HS is indeed a genetically heterogenous disease with potentially three or more genes involved in its molecular pathogenesis...it appears that it may be caused by mutations in genes at multiple locations making it
a more complex disease than originally thought”

J von der Werth et al. 2006

Hidradenitis Suppurativa Foundation, Inc.
The Genetics of Hidradenitis Suppurativa

A form of HS is transmitted within some families [1-4]. Additional research is required to identify the genes involved. This new avenue of research may not only provide more information about how this disease occurs, but may also lead to the development and delivery of new and more effective therapies to relieve the pain and suffering of HS. Worldwide participation and collaboration are the methods by which the HSF seeks to hasten, expedite and coordinate the search for the genetic causes of HS. At the First International HS Research Symposium held March 30-April 2, 2006 in Dessau, Germany, new scientific data on the genetics of HS was presented, which is now published in full [2].

For more information, the HSF provides the following free article, thanks to the generosity and permission of the publisher and authors:

2000 Clinical Genetics of Hidradenitis Suppurativa by Jan von der Werth et al. [1]

Expert Medical Perspectives
Genetics of HS in General: (1) The genetics of HS has received little attention so far; (2) A familial form of HS may affect up to 40% of sufferers; (3) Familial HS follows an autosomal dominant inheritance pattern; (4) A study of the molecular genetics of HS has found linkage to two loci on chromosomes 6 and 19 in three families but no linkage to either of these loci in other families; (5) HS is a genetically heterogeneous disease with mutations in genes at multiple locations. [2]

Genome-Wide Linkage Analysis and Candidate Genes: The genome-wide linkage screen using 400 fluorescently labelled primers on a number of families resulted in two candidate regions for HS susceptibility. These two regions were found on separate chromosomes indicating that HS is a genetically heterogeneous disease. Although no mutation has been found some of the genes appeared to be good candidates due to their function or expression. [2]

The Importance of Collaborative Research: Both genetic and environmental factors have been identified as potential causative factors but assessment of their importance is hampered by the lack of systematic analyses considering potential confounding effects and interactions. For the future a larger collaborative research network promoting more systematic research activity would be desirable. [3]

Acknowledgments & References
[1] von der Werth JM, Williams HC, Raeburn JA. The clinical genetics of hidradenitis suppurativa revisited. Br J Dermatol. 2000; 142(5):947-953. (Provided online with permission from the Author, Jan von der Werth, and Blackwell Publishing. This article is subject to copyright and may not be reproduced, distributed or published, in whole or in part, in any form without the permission of the publishers.)

[4] Howes, R. Barlow, M. Chronology: Familial Hidradenitis Suppurativa Research 1968-2006. March 2007, Hidradenitis Suppurativa Foundation, Inc. This document is authored by non-medical HSF directors and has received no medical/scientific peer review. PDF

 

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