TABLE 2.
Causal genetic variants of NOD1 and NOD2 that are associated with granulomatous autoinflammatory diseases, Crohn’s disease, asthma, and infectious diseases
| Gene | Blau syndrome/early-onset sarcoidosis | Crohn’s disease | Asthma | Infectious diseases |
|---|---|---|---|---|
| NOD1 | G796A255 | ND1+32656247 | Peptic ulceration in H pylori | |
| Rs2975632 | ||||
| Rs2075822 | E266K 256 | |||
| Rs2907749 | Cytomegalovirus | |||
| Rs2907748 244 | rs2284358 | |||
| rs2970500 | ||||
| rs10267377 91 | ||||
| NOD2 | R334W/Q223,227 | R702W159,272 | Leprosy | |
| E383K226,257 | G908R159,272 | rs8057431273 | ||
| R587C227,228 | Fs1007insC159,162,272 | rs9302752274,275 | ||
| H480R258 | R311W, | rs7194886 | ||
| L469F223 | S431L, | rs8057341 | ||
| Y563H259 | R703C, | rs3135499275 | ||
| E667K260 | N852S, | Tuberculosis | ||
| T605N261 | M863V272 | Ala725Gly276 | ||
| G464W262 | R138Q, | Arg587Arg277 | ||
| E600A263 | W157R, | H pylori-associated lymphoma | ||
| D512H259 | N289S, | |||
| E383D264 | D291N, | |||
| C495Y227 | L348V, | R702W278 | ||
| G481D265 | 558delLG, | |||
| R426H221,225 | A612T, | |||
| T605P225,266 | A612V, | |||
| E498G267 | R713C, | |||
| H496L225,266 | E843K231 | |||
| W490L227,228 | ||||
| E338D268 | ||||
| E499_L500 delinsV269 | ||||
| H520Y268,270 | ||||
| N670K225 | ||||
| D390V268 | ||||
| M513R/T225,271 | ||||
| Q809K268 |