title: SNPs previously associated with Dupuytren's disease replicated in a North American cohort.
abstract: OBJECTIVE
  Dupuytren's disease is a progressive fibrosis of the hand that often results in debilitating flexion contractures. Its etiology is not completely understood but likely involves both genetic and environmental factors. A recent study performed in Europe identified DNA variants that associate with Dupuytren's disease. Given the likelihood for genetic variation among populations, we planned to validate the genetic variants identified by this study in a North American population.
  
  
  METHODS
  In the Marshfield Clinic's Personalized Medicine Research Project, 296 cases with Dupuytren's disease were identified and matched 3-to-1 to controls without Dupuytren's disease. Clinical data were abstracted from the electronic medical record. The top 12 single nucleotide polymorphisms (SNPs) from the European study were selected and tested in a multiplex assay using the MassArray Analyzer 4 (Sequenom, Inc., San Diego, CA). Differences in allele frequency were determined, and variants with a P value of <0.004 were considered significant.
  
  
  RESULTS
  We replicated 5 of the 12 SNPs previously reported to be associated with Dupuytren's disease.
  
  
  CONCLUSIONS
  Our findings support a role for the Wnt signaling pathway in the development of Dupuytren's disease, and suggest that further study of this pathway may result in early diagnosis and non-surgical treatments for Dupuytren's disease.
authors.affiliation: Surgical Resident, Marshfield Clinic, Marshfield, WI USA eanderson@dshealthcare.com.
authors.forename: Eric R
authors.initials: ER
authors.lastname: Anderson
authors.affiliation: Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors.forename: Zhan
authors.initials: Z
authors.lastname: Ye
authors.affiliation: Department of General Surgery, Director of Wound Healing Program, Marshfield Clinic, Marshfield, Wisconsin, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Caldwell
authors.affiliation: Clinical Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors.forename: James K
authors.initials: JK
authors.lastname: Burmester
mesh_terms: D016022:Case-Control Studies; D015331:Cohort Studies; D004387:Dupuytren Contracture / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009656:North America; D020641:Polymorphism, Single Nucleotide; D060449:Wnt Signaling Pathway / Q000235:genetics*
keywords: Dupuytren’s disease; Fibrotic hand disease; Genetic replication; Single nucleotide polymorphism; Wnt signaling pathway