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ANCA-Associated Vasculitis

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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

ANCA-associated vasculitis (AAV) is a group of disorders characterized by inflammation affecting small blood vessels. AAV includes microscopic polyangiitis (MPA), granulomatosis with polyangiitis (GPA, formerly Wegener’s granulomatosis), and eosinophilic granulomatosis with polyangiitis (EGPA, formerly 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-gene and genome-wide association studies. Most of the identified genetic AAV risk factors are common variants, whose functional importance still needs further investigation. In this chapter, we discuss the results of genetic studies in AAV. We also present novel approaches to identify the causal variants in complex susceptibility loci and disease mechanisms. Finally, we discuss the challenges in translating genomic data into clinical practice.

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Authors and Affiliations

  1. Department of Medicine and Surgery, University of Parma, Parma, Italy

    Francesco Bonatti & Antonio Percesepe

  2. Hematology and Clinical Immunology, Department of Medicine, University of Perugia, Perugia, Italy

    Alessia Adorni

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

    Antonio Percesepe & Davide Martorana

  4. Nephrology Unit, Meyer Children’s Hospital, Florence, Italy

    Augusto Vaglio

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  1. Francesco Bonatti
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  2. Alessia Adorni
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  3. Antonio Percesepe
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  4. Augusto Vaglio
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  5. Davide Martorana
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Correspondence to Augusto Vaglio .

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  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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Bonatti, F., Adorni, A., Percesepe, A., Vaglio, A., Martorana, D. (2019). ANCA-Associated Vasculitis. 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_6

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