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Genetics of ANCA-Associated Vasculitis

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Anti-Neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis

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

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Abstract

ANCA-associated vasculitis (AAV) is a group of disorders that is caused by inflammation affecting small blood vessels. AAV includes microscopic polyangiitis (MPA), granulomatosis with polyangiitis (GPA) renamed from Wegener’s granulomatosis, and eosinophilic granulomatosis with polyangiitis (EGPA), renamed from Churg-Strauss syndrome. AAV can be considered a complex disease; in fact, both genetic and environmental factors are involved in its susceptibility. To improve the understanding of the disease, the genetic component has been extensively studied by candidate association studies and genome-wide association studies. Most of the identified genetic AAV risk factors are common variants, which still needs further investigation to clarify their importance. In this chapter, we discuss the results of genetic studies in AAV. We also present novel approaches to identifying the causal variants in complex susceptibility loci and disease mechanisms. Finally, we discuss the limitations of current methods and the challenges that we still have to approach in order to translate genomic and epigenomic data into clinical practice.

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Author information

Authors and Affiliations

  1. Nephrology and Immunology Unit, ASST Santi Paolo e Carlo, San Carlo Borromeo Hospital, Milan, Italy

    Federico Alberici

  2. Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK

    Paul Anthony Lyons

  3. Unit of Medical Genetics, University Hospital of Parma, Parma, Italy

    Davide Martorana

Authors
  1. Federico Alberici
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  2. Paul Anthony Lyons
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  3. Davide Martorana
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Corresponding author

Correspondence to Davide Martorana .

Editor information

Editors and Affiliations

  1. Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Monza e Brianza, Italy

    Renato Alberto Sinico

  2. Department of Medicine, Paris Descartes University Hospital Cochin, Paris, France

    Loïc Guillevin

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Alberici, F., Lyons, P.A., Martorana, D. (2020). Genetics of ANCA-Associated Vasculitis. In: Sinico, R., Guillevin, L. (eds) Anti-Neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-02239-6_2

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  • DOI: https://doi.org/10.1007/978-3-030-02239-6_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-02238-9

  • Online ISBN: 978-3-030-02239-6

  • eBook Packages: MedicineMedicine (R0)

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