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The heritability of Dupuytren's disease: familial aggregation and its clinical significance.

PURPOSE: Dupuytren's disease (DD) is a benign, fibroproliferative disease affecting the hands. The familial occurrence of DD and its presence in identical twins suggests a genetic basis for the condition. Our aims in this study were (1) to provide evidence for familial aggregation of DD by estimating the sibling recurrence-risk ratio and (2) to link previously associated environmental risk factors with family history of DD.

METHODS: Patients diagnosed with DD between the ages of 58 and 81 years (N = 92) were interviewed to assess potential risks and the severity of their conditions. A clinical history and examination were performed and we attempted to interview every family member either in person or through a postal questionnaire.

RESULTS: The sibling recurrence-risk ratio (lambda(s)) equaled 2.9 and ranged from 2.6 to 3.3 based on the 95% confidence intervals for the population prevalence. This suggests a high genetic basis for the causation of DD. A lower age of onset and greater severity of DD were associated significantly with a positive family history of DD. Other factors showed no statistical significance with familial aggregation of DD.

CONCLUSIONS: The familial clustering observed in DD likely is due to genetic influence rather than shared environment, as shown by the lack of association with exposure to environmental risk factors and family history. Understanding the genetic basis of DD is important for developing novel diagnostic, preventative, and therapeutic regimens in the future.


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