Frontiers of Medicine

, Volume 6, Issue 4, pp 354–359

The genetics of Behçet’s disease in a Chinese population



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.


Behçet’s disease SNPs immune gene genetic study 


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Copyright information

© Higher Education Press and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.The First Affiliated Hospital of Chongqing Medical UniversityChongqingChina
  2. 2.Chongqing Eye Institute and Chongqing Key Laboratory of OphthalmologyChongqingChina
  3. 3.University Eye Clinic MaastrichtMaastricht, Limburgthe Netherlands

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