Table 1. Age- and study-adjusted odds ratios (OR) and 95% confidence intervals (CI) for the associations between HSD17B1 htSNPs (rs605059 and rs676387) and breast cancer, overall and stratified by estrogen receptor (ER) expression, from 2 independent studies.
| SNP | Cases | Controls | Cases vs. Controls | ER+ Cases | ER+ vs. Controls | ER− Cases | ER− vs. Controls | p- value2 |
|---|---|---|---|---|---|---|---|---|
| N1 | N1 | OR (95% CI) | N1 | OR (95% CI) | N1 | OR (95% CI) | ||
| rs6050593 (Ex6+220 G>A) | ||||||||
| Polish Breast Cancer Study (PBCS) 4 | ||||||||
| AA | 622 | 641 | 1.00 | 302 | 1.00 | 160 | 1.00 | |
| AG | 1,046 | 1,155 | 0.94 (0.82, 1.08) | 537 | 0.98 (0.83, 1.17) | 274 | 0.96 (0.77, 1.19) | 0.75 |
| GG | 510 | 527 | 1.00 (0.85, 1.18) | 227 | 0.91 (0.74, 1.12) | 144 | 1.11 (0.86, 1.43) | 0.18 |
| SEARCH Study 5 | ||||||||
| AA | 1,444 | 1,417 | 1.00 | 596 | 1.00 | 145 | 1.00 | |
| AG | 2,074 | 2,168 | 0.88 (0.79, 0.99) | 902 | 0.92 (0.80, 1.05) | 207 | 0.86 (0.67, 1.11) | 0.57 |
| GG | 800 | 880 | 0.85 (0.73, 0.98) | 334 | 0.85 (0.71, 1.01) | 53 | 0.58 (0.41, 0.83) | 0.01 |
| rs676387 (IVS4-150 C>A) | ||||||||
| Polish Breast Cancer Study (PBCS) 4 | ||||||||
| CC | 1,305 | 1,442 | 1.00 | 613 | 1.00 | 363 | 1.00 | |
| CA | 780 | 805 | 1.07 (0.95, 1.21) | 413 | 1.21 (1.04, 1.41) | 181 | 0.89 (0.73, 1.09) | 0.01 |
| AA | 136 | 123 | 1.22 (0.94, 1.57) | 62 | 1.19 (0.86, 1.63) | 42 | 1.34 (0.92, 1.93) | 0.56 |
| SEARCH Study 5 | ||||||||
| CC | 2,225 | 2,407 | 1.00 | 944 | 1.00 | 187 | 1.00 | |
| CA | 1,765 | 1,787 | 1.11 (1.00, 1.24) | 763 | 1.13 (1.00, 1.29) | 176 | 1.34 (1.06, 1.70) | 0.58 |
| AA | 372 | 352 | 1.16 (0.96, 1.40) | 142 | 1.04 (0.82, 1.31) | 44 | 1.53 (1.03, 2.27) | 0.16 |
1
Ns may not add up to total because of missing genotype data
2
p-value for case heterogeneity by ER status
3
In PBCS (1,995 cases, 2,296 controls), results for rs598126 and rs2010750 were similar to those for rs605059 because the SNPs were highly correlated (r2>0.8)
4
The PBCS includes 1,995 case and 2,296 controls. Of 1,677 cases with ER data, 1,089 had ER-positive tumors and 588 had ER-negative tumors
5
The SEARCH study includes 4,470 cases and 4,560 controls. Of 2,256 cases with ER data, 1.849 had ER-positive tumors and 407 had ER-negative tumors.