Table 1.
Locus genotype | Case, n (%) | Control, n (%) |
OR (95% CI) | P value |
---|---|---|---|---|
DISCOVERY COHORT (TAMPERE) | ||||
HOXB13 rs138213197 | ||||
CC | 2502 (93.7) | 2403 (99.2) | 1.0 | |
CT | 166 (6.20) | 20 (0.80) | 7.9 (4.9-12.7) | 1.22E-24 |
TT1 | 1 (0.10) | 0 (0.00) | - | - |
T carriers | 167 (6.24) | 20 (0.80) | 8.0 (5.0-12.8) | 7.69E-25 |
CIP2A rs2278911 | ||||
CC | 2063 (75.3) | 1785 (73.5) | 1.0 | |
CT | 625 (22.8) | 588 (24.2) | 0.9 (0.8-1.1) | 0.236 |
TT | 50 (1.80) | 54 (2.20) | 0.8 (0.6-1.2) | 0.308 |
T carriers | 675 (24.7) | 642 (26.5) | 0.9 (0.8-1.0) | 0.139 |
Dual carriers of HOXB13 and CIP2A | ||||
HOXB13 C&CIP2A C | 2620 (98.2) | 2369 (97.8) | 1.0 | |
HOXB13 T&CIP2A T | 46 (1.70) | 2 (0.10) | 21.2 (5.2 - 87.5) | 0.000024 |
VALIDATION COHORT (STOCKHOLM) | ||||
HOXB13 rs138213197 | ||||
CC | 3022 (96.5) | 1418 (99.2) | 1.0 | |
CT | 108 (3.44) | 11 (0.77) | 4.6 (2.5-8.6) | 1.57E-6 |
TT1 | 2 (0.06) | 0 (0.00) | - | - |
T carriers | 110 (3.51) | 11 (0.77) | 4.7 (2.5-8.7) | 1.15E-6 |
CIP2A rs2278911 | ||||
CC | 2455 (78.4) | 1103 (77.2) | 1.0 | |
CT | 626 (20.0) | 303 (21.2) | 0.9 (0.8-1.1) | 0.345 |
TT | 51 (1.63) | 23 (1.61) | 1.0 (0.6-1.6) | 0.988 |
T carriers | 677 (21.6) | 326 (22.8) | 0.9 (0.8-1.1) | 0.365 |
Dual carriers of HOXB13 and CIP2A | ||||
HOXB13 C&CIP2A C | 3104 (99.1) | 1427 (99.9) | 1.0 | |
HOXB13 T&CIP2A T | 28 (0.89) | 2 (0.14) | 6.4 (1.5 – 27.0) | 0.011 |
VALIDATION COHORT (TAMPERE2) | ||||
HOXB13 rs138213197 | ||||
CC | 1067 (92.4) | 1178 (99.5) | 1.0 | |
CT | 88 (7.6) | 6 (0.50) | 16.2 (7.1-37.2) | 5.15E-11 |
TT1 | 0 (0.00) | 0 (0.00) | - | - |
T carriers | 88 (7.6) | 6 (0.77) | 16.2 (7.1-37.2) | 5.15E-11 |
CIP2A rs2278911 | ||||
CC | 857 (74.2) | 871 (73.6) | 1.0 | |
CT | 272 (23.5) | 295 (24.9) | 0.9 (0.8-1.1) | 0.441 |
TT | 26 (2.3) | 18 (1.5) | 1.5 (0.8-2.7) | 0.196 |
T carriers | 298 (25.8) | 313 (26.4) | 0.9 (0.8-1.2) | 0.727 |
Dual carriers of HOXB13 and CIP2A | ||||
HOXB13 C&CIP2A C | 1129 (97.7) | 1166 (98.5) | 1.0 | |
HOXB13 T&CIP2A T | 23 (2.0) | 1 (0.10) | 24.0 (3.2 – 178.3) | 0.002 |
Case-control logistic regression analyses; OR, odds ratio, CI, confidence interval;
OR couldn't be calculated because of the limitations of log regression method; Results are in bold & grey highlighted, if the 95% CI excluded 1 and the association significant at p<0.05 vs. controls;