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Takayasu Arteritis

  • Elizabeth Gensterblum
  • Amr H. SawalhaEmail author
Chapter
  • 274 Downloads
Part of the Rare Diseases of the Immune System book series (RDIS)

Abstract

Takayasu arteritis is a rare large-vessel vasculitis that primarily affects young women. Initial evidence for a genetic component to this disease includes a preponderance of risk in East Asian, South Asian, and South American populations, as well as familial aggregation of the disease. The most reproduced genetic association with Takayasu arteritis is with the HLA-B*52 allele, with additional associations in the HLA region described across many ethnicities. Recent studies, including three large-scale genotyping array studies, have found associations with variants in regulatory regions of other immune-related genes, including IL12B, FCGR2A/FCGR3A, IL6, and LILRB3. Several of these variants have been shown to impact the regulation of their associated genes, playing a role in the incompletely understood etiology of Takayasu arteritis.

Keywords

Vasculitis HLA class I HLA B*52 IL12B FCGR2A/FCGR3A IL6 LILRB3 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Division of Rheumatology, Department of Internal MedicineUniversity of MichiganAnn ArborUSA
  2. 2.Center for Computational Medicine and BioinformaticsUniversity of MichiganAnn ArborUSA

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