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 |