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Revisiting MHC Genes in Spondyloarthritis

  • Spondyloarthritis (MA Khan, Section Editor)
  • Published:
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Abstract

Spondyloarthritis (SpA) refers to a variety of inflammatory rheumatic disorders with strong heritability. Shared genetic predisposition, as shown by familial aggregation, is largely attributable to the major histocompatibility complex (MHC) locus, which was estimated to account for approximately half of the whole disease heritability. The first predisposing allele identified more than 40 years ago is HLA-B27, which is a major gene predisposing to all forms of SpA. However, despite intensive research, its pathogenesis remains uncertain. Other MHC alleles belonging to the class I and class II regions have been identified to exert additional effect. Candidate-gene approaches and genome-wide studies have recently allowed identification of several new loci residing outside of the MHC region that are involved in the predisposition to SpA. Interestingly, some of those new genes, such as ERAP1, ERAP2, and NPEPPS, code for aminopeptidases that are involved in MHC class I presentation and were shown to interact with HLA-B27.

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Conflict of Interest

Maxime Breban, Félicie Costantino, Claudine André, Gilles Chiocchia, and Henri-Jean Garchon declare that they have no conflicts of interest.

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Authors and Affiliations

  1. Rheumatology Division, Ambroise Paré Hospital, AP-HP, 9 ave Charles de Gaulle, 92100, Boulogne-Billancourt, France

    Maxime Breban & Félicie Costantino

  2. INSERM U1173, University of Versailles-Saint-Quentin, 2 ave de la Source de la Bièvre, 78180, Montigny-le-Bretonneux, France

    Maxime Breban, Félicie Costantino, Claudine André, Gilles Chiocchia & Henri-Jean Garchon

  3. Faculty of Health Sciences, 2 ave de la Source de la Bièvre, 78180, Montigny-le-Bretonneux, France

    Maxime Breban, Félicie Costantino, Claudine André, Gilles Chiocchia & Henri-Jean Garchon

  4. Genetics Division, Ambroise Paré Hospital, AP-HP, 9 ave Charles de Gaulle, 92100, Boulogne-Billancourt, France

    Maxime Breban, Félicie Costantino, Claudine André, Gilles Chiocchia & Henri-Jean Garchon

  5. Labex Inflamex, University Paris Diderot, Sorbonne Paris Cité, Paris, France

    Henri-Jean Garchon

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  1. Maxime Breban
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Correspondence to Maxime Breban.

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This article is part of the Topical Collection on Spondyloarthritis

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Breban, M., Costantino, F., André, C. et al. Revisiting MHC Genes in Spondyloarthritis. Curr Rheumatol Rep 17, 40 (2015). https://doi.org/10.1007/s11926-015-0516-1

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