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Giant Cell Arteritis

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Genetics of Rare Autoimmune Diseases

Abstract

Giant cell arteritis (GCA) is an immune-mediated large-vessel vasculitis with a complex etiology in which a cross talk between environmental and genetic factors may affect its susceptibility and phenotypic expression. During the last decades, a large number of candidate gene studies explored the genetic component of GCA. However, most genetic associations were inconsistent due to reduced sample sizes and lack of replication in independent populations. More recently, the establishment of international consortia and the use of the novel omic technologies have given a boost to the current knowledge of the pathological mechanisms behind GCA. In this chapter, we will give an updated overview of the recent insights into the genetic basis of GCA.

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Carmona, F.D., Martín, J., González-Gay, M.A. (2019). Giant Cell Arteritis. 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_7

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