What is the role of genetics in the etiology of Takayasu arteritis?

Updated: Nov 14, 2018
  • Author: Jefferson R Roberts, MD; Chief Editor: Herbert S Diamond, MD  more...
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The genetic susceptibility factor that has been most consistently associated with Takayasu arteritis is the human leukocyte antigen (HLA) allele HLA-B*52, which has been confirmed in several ethnicities. HLA-B*52 has a higher prevalence in Asians, which may help explain the greater frequency of Takayasu arteritis in this population. [6, 7]  Carriage of HLA-B∗52 is associated with more severe disease, with a higher incidence of left ventricular wall abnormalities and aortic regurgitation and an earlier disease onset. [10]

Other HLA alleles have also been implicated; for example, HLA-B∗39, HLA-DRB1∗1502, and HLA-DRB1∗0405 have also been associated with the disease in Japanese patients. HLA-B*39 is associated with renal artery stenosis. [10]  In addition, genome-wide association studies have identified several non-HLA susceptibility loci. [7]

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