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Use of Genetic and Genomic Analyses Tools to Study Dupuytren’s Disease

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Dupuytren’s Disease and Related Hyperproliferative Disorders

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Abstract

Genetic susceptibility has been suspected to contribute to development of Dupuytren’s disease (DD) since observations by Goyrand in 1833. DD has a genetic component which has been confirmed by several findings including disease presentation in monozygous twins as well as a more severe form of the disease in individuals with a positive family history of DD. Improved knowledge of the human genome followed by the development of genome-wide research tools has paved the way to a better understanding of the genetics of DD. A wide range of genetic research tools have been applied to DD over the last few decades and this review aims to summarize the tools used and the findings reported in these studies in relation to DD genetics. The genetics tools used for DD studies can be grouped into two broad categories: gene-specific studies and genome wide studies. Major findings from DNA-based studies of DD include linkage on chromosome 16q12.2 in a family with an autosomal dominant form of DD, association with HLA-alleles, Zf9 transcription factor polymorphisms, mitochondrial 16s ribosomal RNA mutation, and transforming growth factor-β receptor 1 polymorphisms (in the recessive model). In addition to studying the genes or gene loci that may contribute DD inheritance, molecular mechanisms involved in DD pathogenesis has also been studied using genetic analysis tools. The major findings of studies into differential gene expression include involvements of several cytokines and growth factors, metalloproteinases and their inhibitors, bone morphogenetic protein, and genes involved in extracellular matrix, cell–cell or cell–matrix interaction. In addition, the β-catenin pathway has been suggested to be involved in the pathogenesis of DD. A greater understanding of the genes involved in DD may potentially allow the development of better prognostic, diagnostic, and therapeutic strategies for the management of this common, yet elusive disorder.

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Authors and Affiliations

  1. Plastic & Reconstructive Surgery Research, Manchester Interdisciplinary Biocentre, Manchester, UK

    Barbara Shih & Ardeshir Bayat

  2. Department of Plastic & Reconstructive Surgery, University Hospital of South Manchester, Manchester, UK

    Stewart Watson

Authors
  1. Barbara Shih
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  2. Stewart Watson
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  3. Ardeshir Bayat
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Corresponding author

Correspondence to Ardeshir Bayat .

Editor information

Editors and Affiliations

  1. The Hand Center, S Old Dixie Highway 1002, Jupiter, 33458, Florida, USA

    Charles Eaton

  2. Strahlenzentrum Hamburg, Langenhorner Chaussee 369, Hamburg, 22419, Germany

    M. Heinrich Seegenschmiedt

  3. Manchester Interdisciplinary Biocentre, Plastic & Reconstructive Surgery, University of Manchester, Princess Street 131, Manchester, M1 7DN, United Kingdom

    Ardeshir Bayat

  4. Faculty of Medicine, Dept. of Pathology and Immunology, University of Geneva, Rue Michel-Servet 1, Geneva, 1211, Switzerland

    Giulio Gabbiani

  5. Medical Center, Department of Plastic Surgery, University of Groningen, Hanzeplein 1, Groningen, 9713 GZ, Netherlands

    Paul Werker

  6. Dupuytren e.V., Westerbuchberg 60b, Übersee, 83236, Germany

    Wolfgang Wach

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© 2012 Springer-Verlag Berlin Heidelberg

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Shih, B., Watson, S., Bayat, A. (2012). Use of Genetic and Genomic Analyses Tools to Study Dupuytren’s Disease. In: Eaton, C., Seegenschmiedt, M., Bayat, A., Gabbiani, G., Werker, P., Wach, W. (eds) Dupuytren’s Disease and Related Hyperproliferative Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-22697-7_12

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  • DOI: https://doi.org/10.1007/978-3-642-22697-7_12

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-22696-0

  • Online ISBN: 978-3-642-22697-7

  • eBook Packages: MedicineMedicine (R0)

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