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HLA System and Giant Cell Arteritis

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Systemic Vasculitides: Current Status and Perspectives

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Abstract

Giant cell arteritis (GCA) is a complex condition in which many loci across the genome may be involved in its susceptibility and phenotypic expression. However, recent large-scale genetic data has shown that the HLA system exerts most of the genetic influence to disease risk, particularly class II genes. This is in contrast with that observed in Takayasu arteritis, the other large vessel vasculitis, in which the HLA association is mainly driven by class I haplotypes. The use of novel imputation methods has made possible an analysis of the HLA system at the amino acid level in GCA. In this context, three polymorphic amino acid positions (positions 13 and 56 of the class II molecules HLA-DRβ1 and HLA-DQα-1, respectively, and position 45 of the class I molecule HLA-B) have been proposed as the causative variants for the HLA association with this type of vasculitis. Although functional experiments may be carried out to confirm these findings, the current data clearly reinforces the idea of GCA as an antigen-driven disease with a major role of T cells.

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Authors and Affiliations

  1. Instituto de Parasitología y Biomedicina “López-Neyra,” CSIC, PTS Granada, Granada, 18016, Spain

    F. David Carmona & Javier Martín

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  1. F. David Carmona
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  2. Javier Martín
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Correspondence to F. David Carmona .

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Editors and Affiliations

  1. University of Bari Medical School, Bari, Italy

    Franco Dammacco

  2. University of Bari Medical School, Bari, Italy

    Domenico Ribatti

  3. University of Bari Medical School, Bari, Italy

    Angelo Vacca

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Carmona, F.D., Martín, J. (2016). HLA System and Giant Cell Arteritis. In: Dammacco, F., Ribatti, D., Vacca, A. (eds) Systemic Vasculitides: Current Status and Perspectives. Springer, Cham. https://doi.org/10.1007/978-3-319-40136-2_9

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