Table 2.
Mutation spectrum of recessive NOD2 variants in the RGC-GHS DiscovEHR adult IBD cohort.
| NOD2 variants | # IBD patients | Mean age (range) | # CD Dx | % CD Dx | # Male | % Male | # Perianal | % Perianal |
|---|---|---|---|---|---|---|---|---|
| Homozygous | ||||||||
| p.R702W | 10 | 47.3 (16.0–76.3) | 10 | 100 | 5 | 50.0 | 1 | 10.0 |
| p.G908R | 0 | – | – | – | – | – | – | – |
| p.L1007fs | 8 | 40.25 (11.0–75.0) | 8 | 100 | 4 | 50.0 | 3 | 37.5 |
| Compound heterozygous | ||||||||
| Common/common | ||||||||
| p.R702W/p.G908R | 6 | 48.5 (11.4–54.2) | 3 | 50.0 | 5 | 83.3 | 1 | 16.7 |
| p.R702W/p.L1007fs | 11 | 38.5 (21.5–69.2) | 8 | 72.7 | 3 | 27.3 | 2 | 18.2 |
| p.G908R/p.L1007fs | 5 | 35.2 (20.0–52.4) | 4 | 80.0 | 2 | 40.0 | 0 | 0.0 |
| Common/rare | 16 | 40.3 (10.8–66.1) | 8 | 50.0 | 8 | 50.0 | 6 | 37.5 |
| Rare/rare | 8 | 60.9 (30.8–78.7) | 4 | 50.0 | 3 | 37.5 | 1 | 12.5 |
Common NOD2 variants refer to the three main low-frequency Crohn’s Disease risk variants p.R702W, p.G908R, and p.L1007fs; Rare NOD2 variants refer to other low-frequency variants (MAF ≤ 5%).
Dx, diagnosis.