Table 1. Minor allele frequencies (MAF) of the three main NOD2 SNPs rs2066844 (p.Arg702Trp), rs2066845 (p.Gly908Arg), and rs2066847 (p.Leu1007fsX1008) for each genotype (homozygous, heterozygous and compound heterozygous) in patients with Crohn’s disease.
| Crohn’s disease | ||
|---|---|---|
| Gene marker | Genotype | MAF |
| (%) | ||
| rs2066844 (n = 1076) | ||
| p.Arg702Trp, minor allele | T | 8.0 (n = 172/2152) |
| Homozygous | TT | 1.1 (n = 24/2152) |
| Heterozygous | CT | 5.3 (n = 114/2152) |
| Compound heterozygous | CT/other NOD2 mutation | 1.6 (n = 34/2152) |
| rs2066845 (n = 1076) | ||
| p.Gly908Arg, minor allele | C | 3.9 (n = 84/2152) |
| Homozygous | CC | 0.2 (n = 4/2152) |
| Heterozygous | GC | 0.5 (n = 68/2152) |
| Compound heterozygous | GC/other NOD2 mutation | 3.2 (n = 12/2152) |
| rs2066847 (n = 1066) | ||
| p.Leu1007fsX1008, minor allele | insC | 13.4 (n = 286/2132)* |
| Homozygous | CC | 5.0 (n = 108/2132)* |
| Heterozygous | XC | 7.2 (n = 153/2132)* |
| Compound heterozygous | XC/other NOD2 mutation | 1.2 (n = 25/2132)* |
*For rs2066847 (p.Leu1007fsX1008), genotype status was only known in 1066 patients, resulting in 2132 alleles.