Giant Cell Arteritis

  • Francisco David CarmonaEmail author
  • Javier Martín
  • Miguel A. González-Gay
Part of the Rare Diseases of the Immune System book series (RDIS)


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.


Vasculitis HLA class II Plasminogen P4HA2 PTPN22 IL17A Th17 Epigenetics 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Francisco David Carmona
    • 1
    • 2
    Email author
  • Javier Martín
    • 3
  • Miguel A. González-Gay
    • 4
    • 5
    • 6
  1. 1.Departamento de Genética e Instituto de BiotecnologíaUniversidad de GranadaGranadaSpain
  2. 2.Centro de Investigación Biomédica (CIBM)Universidad de Granada, Parque Tecnológico Ciencias de la SaludGranadaSpain
  3. 3.Instituto de Parasitología y Biomedicina ‘López-Neyra’, IPBLN-CSICGranadaSpain
  4. 4.Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, IDIVALSantanderSpain
  5. 5.School of MedicineUniversity of CantabriaSantanderSpain
  6. 6.Cardiovascular Pathophysiology and Genomics Research Unit, Faculty of Health SciencesSchool of Physiology, University of the WitwatersrandJohannesburgSouth Africa

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