Table 3 Frequency of MASP1 and NOD2 polymorphisms in 69 Crohn’s disease patients and 30 healthy controls.
SNP | Crohn’s disease patients vs. healthy controls | European allele frequency | Crohn’s disease association P | MBL-MASP activity P | |||
---|---|---|---|---|---|---|---|
Wild-type | Heterozygous | Homozygous | Ref | Muted | |||
MASP1 | |||||||
rs850312 | C/C: 56.5 vs. 54 | C/T: 27.5 vs. 38 | T/T: 16 vs. 8 | C: 66 | T: 34 | ||
rs72549154 | C/C: 94 vs. 88 | C/A: 6 vs. 12 | C: 97 | A: 3 | |||
rs3774268 | A/A: 64 vs. 78 | G/A: 32 vs. 19 | G/G: 4 vs. 4 | A: 15 | G: 85 | ||
rs34090319 | G/G: 48 vs. 50 | G/GG: 46 vs. 42 | GG/GG: 6 vs. 8 | ||||
rs78008995 | G/G: 87 vs. 88 | G/T: 13 vs. 8 | T/T: 0 vs. 4 | ||||
rs72549251 | T/T: 97 vs. 92 | T/C: 3 vs. 8 | |||||
rs16861895 | C/C: 69 vs. 35 | C/G: 28 vs. 61 | G/G: 3 vs. 4 | ||||
rs16861896 | G/G: 69 vs. 35 | G/A: 28 vs. 61 | A/A: 3 vs. 4 | ||||
rs72549254 | G/G: 69 vs. 35 | G/A: 28 vs. 61 | A/A: 3 vs. 4 | ||||
NOD2 | |||||||
rs2066844 (R702W) | C/C: 72 vs. 92 | C/T: 28 vs. 8 | C: 95 | T: 5 | 0.0518 | <0.05 | |
rs2066845 (G908R) | G/G: 88 vs. 88 | G/C: 12 vs. 12 | G: 99 | C: 1 | |||
rs2066847 (l1007fs) | C/C: 75 vs. 96 | C/CC: 22 vs. 4 | CC/CC: 3 vs. 0 | 0.0177 | |||
rs2076753 | G/G: 35 vs. 50 | G/T: 36 vs. 46 | T/T: 29 vs. 4 | 0.0119 | |||
rs2067085 | C/C: 55 vs. 35 | C/G: 32 vs. 54 | G/G: 13 vs. 11 | C: 57 | G: 43 | ||
rs2066842 | C/C: 33 vs. 58 | C/T: 38 vs. 38 | T/T: 29 vs. 4 | C: 76 | T: 24 | 0.002 | |
rs2066843 | C/C: 33 vs. 58 | C/T: 38 vs. 38 | T/T: 29 vs. 4 | C: 76 | T: 24 | 0.002 | |
rs1861759 | T/T: 56 vs. 31 | T/G: 30 vs. 54 | G/G: 13 vs. 15 | T: 58 | G: 42 | ||
rs5743291 | G/G: 91 vs. 85 | G/A: 7 vs. 15 | A/A: 1 vs. 0 | G: 90 | A: 10 | ||
rs1077861 | A/A: 55 vs. 4 | T/A: 33 vs. 69 | T/T: 12 vs. 27 |