2012年 第6卷 第4期
《医学前沿（英文）》 >> 2012年 第6卷 第4期 doi: 10.1007/s11684-012-0234-2
The genetics of Beh?et’s disease in a Chinese population
1. The First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China;
2. Chongqing Eye Institute and Chongqing Key Laboratory of Ophthalmology, Chongqing 400016, China;
3. University Eye Clinic Maastricht, Maastricht, Limburg, the Netherlands
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摘要
Beh?et’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 Beh?et’s disease. To explore the genetic factors for Beh?et’s disease, our group investigated the association of Beh?et’s disease with multiple immune response genes and has identified multiple Beh?et’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 Beh?et’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 Beh?et’s disease and hopefully will allow the development of novel treatment regimes.
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