Table 5.
Allele and genotype distribution for the NOD2 c.3020insC (p.1007fs rs5743293) variant.
| c.3020insC (p.1007fs) rs5743293 |
Genotypes n (%) |
Alleles n (%) |
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|---|---|---|---|---|---|---|
| Group | n | insC/insC | -/insC | -/- | - | insC |
| IBD whole group * | 573 | 39 (6.8%) | 90 (15.7%) | 444 (77.5%) | 978 (85.3%) | 168 (14.7%) |
| UC adults * | 210 | 6 (2.9%) | 20 (9.5%) | 184 (87.6%) | 388 (92.4%) | 32 (7.6%) |
| UC adult women * | 98 | 4 (4.1%) | 4 (4.1%) | 90 (91.8%) | 184 (93.9%) | 12 (6.1%) |
| UC adult men | 112 | 2 (1.8%) | 16 (14.3%) | 94 (83.9%) | 204 (91.1%) | 20 (8.9%) |
| UC children | 64 | 1 (1.6%) | 11 (17.2%) | 52 (81.2%) | 115 (89.8%) | 13 (10.2%) |
| UC girls | 27 | 1 (3.7%) | 4 (14.8%) | 22 (81.5%) | 48 (88.9%) | 6 (11.1%) |
| UC boys | 37 | n.o. | 7 (19.9%) | 30 (81.1%) | 67 (90.5%) | 7 (9.5%) |
| UC whole group * | 274 | 7 (2.6%) | 31 (11.3%) | 236 (86.1%) | 503 (91.8%) | 45 (8.2%) |
| CD adults * | 215 | 25 (11.6%) | 48 (22.3%) | 142 (66.1%) | 332 (77.2%) | 98 (22.8%) |
| CD adult women * | 117 | 11 (9.4%) | 21 (17.9%) | 85 (72.7%) | 191 (81.6%) | 43 (18.4%) |
| CD adult men * | 98 | 14 (14.3%) | 27 (27.5%) | 57 (58.2%) | 141 (71.9%) | 55 (28.1%) |
| CD children * | 84 | 7 (8.3%) | 11 (13.1%) | 66 (78.6%) | 143 (85.1%) | 25 (14.9%) |
| CD girls * | 40 | 3 (7.5%) | 4 (10%) | 33 (82.5%) | 70 (87.5%) | 10 (12.5%) |
| CD boys * | 44 | 4 (9.1%) | 7 (15.9%) | 33 (75%) | 73 (83%) | 15 (17%) |
| CD whole group * | 299 | 32 (10.7%) | 59 (19.7%) | 208 (69.6%) | 475 (79.4%) | 123 (20.6%) |
| Controls | 888 | n.o. | 73 (8.2%) | 815 (91.8%) | 73 (4.1%) | 1703 (95.9%) |
| (insC/insC) vs. (-/-) OR 95% CI p-value |
(insC/-) vs. (-/-) OR 95% CI p-value |
(insC/insC) + (insC/-) vs. (-/-) OR 95% CI p-value |
(insC) vs. (-) OR 95% CI p-value |
|||
| IBD vs. controls |
OR = 64.16
CI = (8.38–2228.16) p < 0.001 |
OR = 2.26
CI = (1.63–3.15) p < 0.001 |
OR = 3.24
CI = (2.38–4.42) p < 0.001 |
OR = 3.01
CI = (3.01–5.33) p < 0.001 |
||
| UC adults vs. controls |
OR = 57.46
CI = (3.22–1024.52) p < 0.001 |
OR = 1.21 CI = (0.72–2.04) p = 0.465 |
OR = 1.58 CI = (0.98–2.54) p = 0.058 |
OR = 1.92
CI = (1.25–2.96) p = 0.002 |
||
| UC children vs. controls |
OR = 46.60
CI = (1.87–1157.89) p < 0.001 |
OR = 2.36
CI = (1.18–4.72) p = 0.013 |
OR = 2.58
CI = (1.32–5.04) p = 0.004 |
OR = 2.64
CI = (1.42–4.90) p = 0.001 |
||
| UC adults vs. UC children | OR = 1.70 CI = (0.20–14.40) p = 0.625 |
OR = 0.51 CI = (0.23–1.41) p = 0.097 |
OR = 0.61 CI = (0.29–1.30) p = 0.197 |
OR = 0.73 CI = (0.37–1.44) p = 0.360 |
||
| UC women vs. UC men | OR = 2.10 CI = (0.37–11.69) p = 0.392 |
OR = 0.26
CI = (0.08–0.81) p = 0.014 |
OR = 0.46 CI = (0.19–1.12) p = 0.083 |
OR = 0.67 CI = (0.32–1.40) p = 0.280 |
||
| UC girls vs. UC boys | OR = 4.07 CI = (0.16–104.53) p = 0.249 |
OR = 0.78 CI = (0.20–2.99) p = 0.716 |
OR = 0.97 CI = (2.84–3.48) p = 0.968 |
OR = 1.20 CI = (0.38–3.79) p = 0.760 |
||
| UC whole group vs. controls |
OR = 51.72
CI = (2.94–908.93) p < 0.001 |
OR = 1.47 CI = (0.94–3.29) p = 0.090 |
OR = 1.80
CI = (0.18–2.73) p = 0.005 |
OR = 2.09
CI = (1.42–3.07) p < 0.001 |
||
| CD adults vs. controls |
OR = 291.86
CI = (17.67–4821.24) p < 0.001 |
OR = 3.77
CI = (2.52–5.66) p < 0.001 |
OR = 5.74
CI = (3.96–8.31) p < 0.001 |
OR = 6.89
CI = (4.98–9.53) p < 0.001 |
||
| CD children vs. controls |
OR = 183.95
CI = (10.39–3255.99) p < 0.001 |
OR = 1.86 CI = (0.94–3.70) p = 0.070 |
OR = 3.05
CI = (1.72–5.40) p < 0.001 |
OR = 4.08
CI = (2.51–6.63) p < 0.001 |
||
| CD adults vs. CD children | OR = 1.66 CI = (0.68–4.03) p = 0.259 |
OR = 2.03 CI = (0.99–4.16) p = 0.050 |
OR = 1.86
CI = (1.04–3.41) p = 0.034 |
OR = 1.69
CI = (1.04–2.73) p = 0.032 |
||
| CD women vs. CD men | OR = 0.53 CI = (0.22–1.24) p = 0.139 |
OR = 0.52 CI = (0.27–1.01) p = 0.052 |
OR = 0.52
CI = (0.30–0.93) p = 0.026 |
OR = 0.58
CI = (0.37–0.91) p = 0.017 |
||
| CD girls vs. CD boys | OR = 0.75 CI = (0.16–3.62) p = 0.719 |
OR = 0.57 CI = (0.15–2.14) p = 0.402 |
OR = 0.64 CI = (0.22–1.84) p = 0.402 |
OR = 0.70 CI = (0.29–1.65) p = 0.408 |
||
| CD whole group vs. controls |
OR = 254.23
CI = (15.50–4169.02) p < 0.001 |
OR = 3.17
CI = (2.18–4.61) p < 0.001 |
OR = 4.88
CI = (3.46–6.89) p < 0.001 |
OR = 6.04
CI = (4.44–8.21) p < 0.001 |
||
| CD whole group vs. UC whole group |
OR = 5.19
CI = (2.24–12.00) p < 0.001 |
OR = 2.16
CI = (1.35–3.47) p = 0.001 |
OR = 2.72
CI = (1.78–4.14) p < 0.001 |
OR = 2.89
CI = (2.01–4.16) p < 0.001 |
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Statistically significant results are marked in bold; n.o.: not observed; *: deviation from HWE.