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.

ANCA-Associated Vasculitis / Bonatti, F.; Adorni, A.; Percesepe, A.; Vaglio, A.; Martorana, D.. - (2019), pp. 111-128. [10.1007/978-3-030-03934-9_6]

ANCA-Associated Vasculitis

Percesepe A.;Vaglio A.;Martorana D.
2019

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.
978-3-030-03933-2
978-3-030-03934-9
ANCA-Associated Vasculitis / Bonatti, F.; Adorni, A.; Percesepe, A.; Vaglio, A.; Martorana, D.. - (2019), pp. 111-128. [10.1007/978-3-030-03934-9_6]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2931681
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