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The importance of genetic susceptibility in Dupuytren's disease

Becker, K., Tinschert, S., Lienert, A., Bleuler, P.E., Staub, F., Meinel, A., Rössler, J., Wach, W., Hoffmann, R., Kühnel, F., Damert, H.G., Nick, H.E., Spicher, R., Lenze, W., Langer, M., Nürnberg, P. and Hennies, Hans C. (2015) The importance of genetic susceptibility in Dupuytren's disease. Clinical Genetics, 87 (5). pp. 483-487. ISSN 0009-9163

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Dupuytren's disease (DD) is a progressive fibromatosis that causes the formation of nodules and cords in the palmar aponeurosis leading to flexion contracture of affected fingers. The etiopathogenesis is multifactorial with a strong genetic predisposition. It is the most frequent genetic disorder of connective tissues. We have collected clinical data from 736 unrelated individuals with DD who underwent surgical treatment from Germany and Switzerland. We evaluated a standardised questionnaire, assessed the importance of different risk factors and compared subgroups with and without positive family history. We found that family history clearly had the strongest influence on the age at first surgery compared to environmental factors, followed by male sex. Participants with a positive family history were on average 55.9 years of age at the first surgical intervention, 5.2 years younger than probands without known family history (p = 6.7 x 10(-8) ). The percentage of familial cases decreased with age of onset from 55% in the 40-49 years old to 17% at age 80 years or older. Further risk factors analysed were cigarettes, alcohol, diabetes, hypertension, and epilepsy. Our data pinpoint the importance of genetic susceptibility for DD, which has long been underestimated.

Item Type: Article
Additional Information: Unmapped bibliographic data: ST - The importance of genetic susceptibility in Dupuytren's disease [Field not mapped to EPrints] AD - Cologne Center for Genomics; Cluster of Excellence on Cellular Stress Responses in Aging-associated Diseases, University of Cologne, Cologne, Germany. [Field not mapped to EPrints] AN - 24749973 [Field not mapped to EPrints]
Uncontrolled Keywords: Adult
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Depositing User: Hans Hennies
Date Deposited: 06 Jul 2016 14:40
Last Modified: 29 Jul 2016 12:57


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