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. 2013 Apr 30;110(20):8134–8139. doi: 10.1073/pnas.1306352110

Table 2.

Risk effects of the rare and low frequency nonsynonymous variants associated with Behçet disease (BD) and Crohn disease (CD)

Gene Variant BD CD Function
IL23R G149R Protective Protective Unknown
R381Q Protective Protective Reduces interleukin 23 dependent interleukin 17 production
TLR4 D299G Protective Risk Reduces response to LPS
T399I Protective Risk Reduces response to LPS
NOD2 R702W Protective Risk Reduces response to MDP
G908R Protective Risk Reduces response to MDP
L1007fs Protective Risk Reduces response to MDP
MEFV M694V Risk Risk Increases response to LPS