Table 2.
Association of SNP rs1014971 and A3AB deletion haplotypes with bladder cancer risk in individuals of European ancestry, a Japanese population, and the combined set
| Haplotype SNP-deletion | Haplotype effect |
European ancestry 1,717 cases and 2,525 controls |
Japanese 1,097 cases and 898 controls |
Meta-analysis 2,814 cases and 3,423 controls |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cases, N (%) |
Controls, N (%) |
OR (CI)* | P-val* | Cases, N (%) |
Controls, N (%) |
OR (CI) | P-val | OR (CI)* | P-val | |||
| 1 | T_I | R_R | 2,393 (69.69) |
3,261 (64.49) |
ref | - | 954 (43.48) | 707 (39.37) | ref | - | ref | - |
| 2 | C_I | P_R | 843 (24.55) |
1,446 (28.63) |
0.85 (0.76–0.94) |
0.001 | 674 (30.72) | 595 (33.13) | 0.83 (0.70–0.97) |
0.023 | 0.84 (0.77–0.92) |
3.6 ×10−5 |
| 3 | C_D | P_P | 147 (4.28) |
275 (5.45) | 0.78 (0.63–0.97) |
0.024 | 544 (24.79) | 477 (26.56) | 0.82 (0.69–0.98) |
0.033 | 0.8 (0.70–0.92) |
0.002 |
| 4 | T_D | R_P | 51 (1.49) |
68 (1.35) | 1.01 (0.69–1.48) |
0.963 | 22 (1.0) |
17 (0.95) |
1.08 (0.69–1.48) |
0.835 | 1.03 (0.73–1.44) |
0.89 |
Haplotypes include SNP rs1014971 with alleles T and C and the A3AB deletion with alleles I – insertion and D - deletion;
Haplotype effect: P - protective, R – risk, based on association with bladder cancer risk;
ORs and p-values are adjusted for age, sex, smoking, and study site (SBCS, Spain and PLCO, USA). N – number of chromosomes. The haplotype in which the risk effect of rs1014971-T allele could be neutralized by the deletion allele (haplotype 4) is uncommon in both populations (~1–1.5% in Europeans and Japanese). The haplotype with the protective rs1014971-C allele and the deletion allele (haplotype 3) is uncommon in Europeans (~5%) and common in the Japanese (~25%), but the protective effect of this haplotype is similar to that of the haplotype with the protective allele of rs1014971 alone (haplotype 2). Ref. - reference group.