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Frontiers of Medicine

ISSN 2095-0217

ISSN 2095-0225(Online)

CN 11-5983/R

Postal Subscription Code 80-967

2018 Impact Factor: 1.847

Front Med    2012, Vol. 6 Issue (4) : 354-359     DOI: 10.1007/s11684-012-0234-2
The genetics of Beh?et’s disease in a Chinese population
Shengping Hou1,2, Aize Kijlstra3, Peizeng Yang1,2()
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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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.

Keywords Beh?et’s disease      SNPs      immune gene      genetic study     
Corresponding Authors: Yang Peizeng,   
Issue Date: 05 December 2012
URL:     OR
GeneSNPsAllele/genotypeP valueORReference
HLA-B51--2.54 × 10-65.94[9]
CCR1/CCR3rs13084057G1.71 × 10-70.32[36]
rs13092160C6.50 × 10-80.28
rs13075270C2.76 × 10-70.32
H3GTGAC7.79 × 10-40.16
H6CCATTA2.70 × 10-30.15
rs897200A6.20 × 10-91.45[39]
rs7574070T3.36 × 10-71.40
rs7572482T1.30 × 10-81.44
IL23Rrs17375018G8.88 × 10-41.57[41]
GG3.47 × 10-41.86
rs11209032G1.26 × 10-30.67
MCP-1-2518 A/GAA0.0480.64[46]
UBAC2rs3825427T6.90 × 10-61.5[50]
rs9517668T3.30 × 10-41.4
rs9517701G2.90 × 10-51.4
SUMO4 + 438 C→TC0.0021.7[9]
FCRL3- 110 A→GA0.0440.7[51]
Tab.1  The summary of the associated genes of Behcet’s disease in the Chinese Han population
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