Frontiers of Medicine

, Volume 6, Issue 4, pp 354–359

The genetics of Behçet’s disease in a Chinese population

Authors

  • Shengping Hou
    • The First Affiliated Hospital of Chongqing Medical University
    • Chongqing Eye Institute and Chongqing Key Laboratory of Ophthalmology
  • Aize Kijlstra
    • University Eye Clinic Maastricht
    • The First Affiliated Hospital of Chongqing Medical University
    • Chongqing Eye Institute and Chongqing Key Laboratory of Ophthalmology
Review

DOI: 10.1007/s11684-012-0234-2

Cite this article as:
Hou, S., Kijlstra, A. & Yang, P. Front. Med. (2012) 6: 354. doi:10.1007/s11684-012-0234-2
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Abstract

Behçet’s disease is defined as a multisystemic inflammatory disease. Although the precise pathogenesis and etiology is still a mystery, accumulating evidence shows that genetic variants of immune-related genes have a profound influence on the development of Behçet’s disease. To explore the genetic factors for Behçet’s disease, our group investigated the association of Behçet’s disease with multiple immune response genes and has identified multiple Behçet’s disease-related immunoregulatory pathways in the Chinese Han population. A large number of gene polymorphisms were studied including STAT4, IL23R, CD40, CCR1/CCR3, STAT3, OPN, IL17, JAK2, MCP-1, CTLA4, PD-1, PD-L1, PD-L2, TGRBR3, CCR6, PTPN22, FCRL3, IRF5, SUMO4 and UBAC2. Significant associations were found between Behçet’s disease and STAT4, IL23R, CD40, CCR1/CCR3, STAT3, MCP-1, TGFBR3, FCRL3, SUMO4, UBAC2. These genetic predisposition studies support an important role for both lymphocyte differentiation as well as ubiquitination pathways. These findings are helpful in elucidating the pathogenesis of Behçet’s disease and hopefully will allow the development of novel treatment regimes.

Keywords

Behçet’s diseaseSNPsimmune genegenetic study
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© Higher Education Press and Springer-Verlag Berlin Heidelberg 2012