Capstick R, Bragg T, Giele H, Furniss D
Nuffield Department of Surgical Sciences, University of Oxford, UK.
J Hand Surg Eur Vol. 2013 May;38(4):424-9. doi: 10.1177/1753193412453359. Epub 2012 Jul 11.
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.
杜普伊特伦挛缩病是一种复杂的病症,遗传因素和环境因素均对其病因有影响。我们旨在通过计算同胞复发风险(ls)来量化遗传因素导致该病的程度,并计算目前已知的基因座所解释的遗传度比例。从174名经手术确诊患有该病的患者的同胞中,随机选取了100名。对照是从因与糖尿病无关的眼部疾病到眼科门诊就诊的患者中招募的。病例组和对照组之间的基线特征没有统计学上的显著差异。在同胞中,47%患有杜普伊特伦挛缩病,而对照组为10%,ls为4.5。目前已知的易患杜普伊特伦挛缩病的基因座占该病总遗传度的12.1%。杜普伊特伦挛缩病在同胞中比在对照组中明显更常见。这些结果准确地量化了杜普伊特伦挛缩病遗传易感性的程度。