Table 2.
Association testing of the T130I variant of HNF4A
| Study sample | N | Cases: Genotype counts (Genotype frequencies) |
Controls: Genotype counts (Genotype frequencies) |
Statistical Analysis | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Cases/Controls | CC | CT | TT | CC | CT | TT | OR Het (95% CI) |
OR Hom (95% CI) |
PAdd | |
| UK1 | 4040/5012 | 3771 (93.34%) |
266 (6.59%) |
3 (0.07%) |
4711 (94.00%) |
291 (5.81%) |
10 (0.19%) |
1.09 (0.92-1.29) |
1.18 (0.84-1.65) |
0.333 |
| UK2 | 1158A/9744 | 1069 (92.31%) |
89 (7.69%) |
0 (0.00%) |
9175 (94.16%) |
563 (5.78%) |
6 (0.06%) |
1.32 (1.04-1.66) |
1.74 (1.08-2.77) |
0.020 |
| DK1 | 2447/0 | 2240 (91.54%) |
200 (8.17%) |
7 (0.29%) |
- | - | - | - | - | - |
| DK2 | 1324/4727 | 1216 (91.84%) |
106 (8.01%) |
2 (0.15%) |
4412 (93.33%) |
305 (6.45%) |
10 (0.21%) |
1.21 (0.97-1.51) |
1.47 (0.93-2.29) |
0.090 |
| DK1 and DK2 | 3771/4727 | 3456 (91.65%) |
306 (8.11%) |
9 (0.24%) |
4412 (93.33%) |
305 (6.45%) |
10 (0.21%) |
1.26 (1.07-1.47) |
1.57 (1.15-2.16) |
0.004 |
| Category 1 | 7645/14756 | 1.20 (1.08-1.33) |
1.44 (1.17-1.77) |
5×10−4 | ||||||
| (UK1, UK2, DK1, DK2) | ||||||||||
| FS1 | 1160/1172 | 1057 (91.12%) |
98 (8.44%) |
5 (0.43%) |
1087 (92.75%) |
82 (7.00%) |
3 (0.26%) |
1.24 (0.93-1.66) |
1.54 (0.86-2.77) |
0.134 |
| FS2 | 1181/1237 | 1069 (90.52%) |
109 (9.23%) |
3 (0.25%) |
1142 (92.32%) |
93 (7.52%) |
2 (0.16%) |
1.25 (0.94-1.67) |
1.57 (0.89-2.78) |
0.122 |
| MS1 | 774/2957 | 720 (93.02%) |
52 (6.72%) |
2 (0.26%) |
2760 (93.34%) |
191 (6.46%) |
6 (0.20%) |
1.05 (0.77-1.43) |
1.11 (0.59-2.03) |
0.758 |
| BR1 | 111/110 | 107 (96.40%) |
4 (3.60%) |
0 (0.00%) |
106 (96.36%) |
4 (3.64%) |
0 (0.00%) |
0.99 (0.18-5.46) |
- | 1.000 |
| BR2 | 488/483 | 460 (94.26%) |
26 (5.33%) |
2 (0.41%) |
451 (93.37%) |
31 (6.42%) |
1 (0.21%) |
0.90 (0.54-1.51) |
0.81 (0.29-2.29) |
0.711 |
| BR3 | 500/500 | 461 (92.20%) |
36 (7.20%) |
3 (0.60%) |
459 (91.80%) |
39 (7.80%) |
2 (0.40%) |
0.98 (0.63-1.52) |
0.96 (0.39-2.31) |
1.000 |
| Category 1 and 2 (UK1, UK2, DK1, DK2, FS1, FS2, MS1, BR1, BR2, BR3) |
13183/25942 | 1.17 (1.08-1.28) |
1.38 (1.17-1.63) |
1.5×10−4 | ||||||
| Category 1, 2 and 3 (UK1, UK2, DK1, DK2, FS1, FS2, MS1, BR1, BR2, BR3, PI1, JP1, MX1) |
14279/26835 | 1.20 (1.10-1.30) |
2.1×10−5 | |||||||
CC: Common Homozygote; CT: Heterozygote; TT: Rare Homozygote
N: Total number successfully genotyped only
OR Het: Odds Ratio for Heterozygote carriers compared to CC; OR Hom: Odds Ratio for rare allele homozygotes compared to CC
PAdd: P value for additive model
A: Full sample set not available in Oxford at the time of genotyping (n=1193 cases available for genotyping)