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Polymyositis/Dermatomyositis

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Genetics of Rare Autoimmune Diseases

Part of the book series: Rare Diseases of the Immune System ((RDIS))

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Abstract

The idiopathic inflammatory myopathies (IIM) are a spectrum of rare and heterogeneous autoimmune conditions, mainly dermatomyositis (DM) and polymyositis (PM), characterized by muscle weakness. They show a very complex etiology in which both environmental and genetic factors seem to contribute to disease predisposition. During the last years, the development of large-scale genetic scans in different populations, including genome-wide association and Immunochip studies, has represented an important step forward to the understanding of the genetic basis of these disorders. These studies have confirmed the human leukocyte antigen (HLA) region as the main genetic risk factor for IIM and identified novel non-HLA susceptibility loci, highlighting the existence of a shared genetic component between DM/PM and other immune-mediated diseases. However, a large part of the genetic basis of IIM remains unidentified, and, therefore, future efforts will be necessary to gain insight into this missing heritability, as well as on the functional consequences of associated variants. In addition, the role of epigenetic modifications in the IIM pathogenesis is being currently explored. Integrating genetics and epigenetics may offer a powerful approach to better understand the molecular mechanisms involved in myositis.

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Authors and Affiliations

  1. Systemic Autoimmune Disease Unit, Instituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain

    Ana Márquez

  2. Department of Rheumatology, Vall d’Hebron General Hospital, Barcelona, Spain

    Ernesto Trallero-Araguás

  3. Internal Medicine Department, Autonomous University of Barcelona, Barcelona, Spain

    Albert Selva-O’Callaghan

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  1. Ana Márquez
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  2. Ernesto Trallero-Araguás
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  3. Albert Selva-O’Callaghan
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Correspondence to Ana Márquez .

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Editors and Affiliations

  1. Institute of Parasitology and Biomedicine, Lopez-Neyra, CSIC, Granada, Spain

    Javier Martín

  2. Department of Genetics, University of Granada, Armilla, Granada, Spain

    Francisco David Carmona

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Márquez, A., Trallero-Araguás, E., Selva-O’Callaghan, A. (2019). Polymyositis/Dermatomyositis. In: Martín, J., Carmona, F. (eds) Genetics of Rare Autoimmune Diseases. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-03934-9_5

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