title: Genetic Susceptibility to ANCA-Associated Vasculitis: State of the Art.
abstract: ANCA-associated vasculitis (AAV) is a group of disorders that is caused by inflammation affecting small blood vessels. Both arteries and veins are affected. 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 is primarily due to leukocyte migration and resultant damage. Despite decades of research, the mechanisms behind AAV disease etiology are still not fully understood, although it is clear that genetic and environmental factors are involved. To improve the understanding of the disease, the genetic component has been extensively studied by candidate association studies and two genome-wide association studies. The majority of the identified genetic AAV risk factors are common variants. These have uncovered information that still needs further investigation to clarify its importance. In this review, we summarize and discuss the results of the genetic studies in AAV. We also present the 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 face in order to incorporate genomic and epigenomic data into clinical practice.
authors.affiliation: Unit of Medical Genetics, Laboratory of Molecular Genetics, Diagnostic Department, University Hospital of Parma , Parma , Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Bonatti
authors.affiliation: Unit of Medical Genetics, Laboratory of Molecular Genetics, Diagnostic Department, University Hospital of Parma , Parma , Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Reina
authors.affiliation: Unit of Medical Genetics, Laboratory of Molecular Genetics, Diagnostic Department, University Hospital of Parma , Parma , Italy.
authors.forename: Tauro Maria
authors.initials: TM
authors.lastname: Neri
authors.affiliation: Unit of Medical Genetics, Laboratory of Molecular Genetics, Diagnostic Department, University Hospital of Parma , Parma , Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Martorana
keywords: ANCA-associated vasculitis; eosinophilic granulomatosis with poliangiitis; genome-wide association studies; granulomatosis with poliangiitis; microscopic poliangiitis; pharmacogenetics; rituximab