Sibling recurrence risk in Dupuytren’s disease

Abstract

Dupuytren's disease is a complex condition, with both genetic and environmental factors contributing to its aetiology. We aimed to quantify the extent to which genetic factors predispose to the disease, through the calculation of sibling recurrence risk (ls), and to calculate the proportion of heritability accounted for by currently known genetic loci. From 174 siblings of patients with surgically confirmed disease, 100 were randomly selected. Controls were recruited from patients attending an ophthalmology outpatient clinic for eye conditions unrelated to diabetes. There were no statistically significant differences in baseline characteristics between the case and control groups. In siblings, 47% had Dupuytren's disease, compared with 10% of controls, giving a ls of 4.5. Currently known loci that predispose to Dupuytren's disease account for 12.1% of the total heritability of the disease. Dupuytren's disease was significantly more common in siblings than in controls. These results accurately quantify the magnitude of the genetic predisposition to Dupuytren's disease.

Genetic and environmental influences in Dupuytren’s disease: A study of 30,330 Danish twin pairs

“…The results indicate a strong genetic influence in DD, which agrees with observations made in earlier family studies (Capstick et al, 2013; Hindocha et al, 2006; Hu et al, 2005). The advantage of the present study was the use of large nationwide population-based registers with long and complete follow-ups.…”

“…In two recent studies the risk of DD was found to be between 2.9 and 4.5 times higher in individuals with an affected sibling than in the general population (Capstick et al, 2013; Hindocha et al, 2006). A positive family history was noted in 41% and 47% of patients with DD, respectively.…”

SNPs Previously Associated with Dupuytren's Disease Replicated in a North American Cohort

“…7 Both genetic and environmental factors are likely to contribute to DD. [8][9][10] Environmental factors known to affect the development of DD include repeated hand injuries, diabetes, epilepsy, alcohol consumption, and tobacco use. [11][12][13] These factors play a role in inflammation, fibrosis, cellular trauma, and ischemia, affecting the interaction between the myofibroblast and collagen matrix.…”

Dupuytren disease

“…10 Further work is required to be able to explain all these findings, including the double spiral around the digital nerve during surgery. 28 Additionally, the disease occurs more frequently when diseases such as diabetes mellitus are present or following long-term barbiturate use.…”