Table 1. Association result of independent signal among European and the set of highly correlated common variants.
| Population | European | Candidate Causal SNPs | Positionb | r2c | RLc | Infod | P-valuee | OR (95% CI)e | |
|---|---|---|---|---|---|---|---|---|---|
| rs2787497§ | 53176211 | 0.89 | 0.01 | 1 | 9.27E-13 | 0.93 (0.91, 0.95) | |||
| Independent Signal | rs2787486* | rs8082622§ | 53177567 | 0.90 | 0.01 | 1 | 7.06E-13 | 0.93 (0.91, 0.94) | |
| rs2529510§§ | 53182046 | 0.84 | 0.13 | 0.91 | 6.92E-14 | 0.92 (0.90, 0.94) | |||
| Major/Minor (MAF) | A/C (0.28) | rs244373§§ | 53184949 | 0.99 | 0.13 | 0.98 | 7.30E-14 | 0.92 (0.90, 0.94) | |
| rs244358§ | 53192231 | 0.89 | 0.01 | 1 | 9.68E-13 | 0.93 (0.91, 0.95) | |||
| Overall Risk a | P-value | 8.96E-15 | rs187242§§ | 53192946 | 0.98 | 0.01 | 0.98 | 8.17E-13 | 0.93 (0.91, 0.95) |
| OR (95% CI) | 0.92 (0.90, 0.94) | rs244353§ | 53194769 | 0.99 | 0.16 | 1 | 5.75E-14 | 0.92 (0.90, 0.94) | |
| rs244348§ | 53196291 | 0.90 | 0.01 | 1 | 7.08E-13 | 0.93 (0.91, 0.94) | |||
| ER+ a | P-value | 1.39E-14 | rs244342§ | 53198407 | 0.99 | 0.14 | 1 | 6.73E-14 | 0.92 (0.90, 0.94) |
| OR (95% CI) | 0.91 (0.88, 0.93) | rs244338§ | 53200418 | 0.99 | 0.15 | 1 | 6.21E-14 | 0.92 (0.90, 0.94) | |
| rs244337§§ | 53201124 | 0.99 | 0.14 | 0.99 | 6.60E-14 | 0.92 (0.90, 0.94) | |||
| ER− a | P-value | 0.0177 | rs244336§ | 53201502 | 0.90 | 0.01 | 1 | 8.80E-13 | 0.93 (0.91, 0.95) |
| OR (95% CI) | 0.95 (0.91, 0.99) | chr17:53205761:D§§ | 53205761 | 0.90 | 0.01 | 0.99 | 9.42E-13 | 0.93 (0.91, 0.95) | |
| rs2628321§ | 53205917 | 0.99 | 0.16 | 1 | 5.88E-14 | 0.92 (0.90, 0.94) | |||
| rs2787486§§* | 53209774 | 0.96 | 8.96E-15 | 0.92 (0.90, 0.94) | |||||
| rs2787481§ | 53211110 | 0.90 | 0.01 | 1 | 6.44E-13 | 0.92 (0.91, 0.94) | |||
| rs244315§ | 53214654 | 0.90 | 0.02 | 1 | 4.72E-13 | 0.92 (0.91, 0.94) | |||
| rs244317§ | 53216985 | 0.90 | 0.02 | 1 | 5.79E-13 | 0.92 (0.91, 0.94) | |||
| rs2628316§ | 53219837 | 0.99 | 0.15 | 1 | 6.00E-14 | 0.92 (0.90, 0.94) | |||
| chr17:53221365:I§§ | 53221365 | 0.99 | 0.10 | 0.98 | 9.68E-14 | 0.92 (0.90, 0.94) | |||
| rs244318§§ | 53221368 | 0.97 | 0.02 | 0.98 | 4.19E-13 | 0.93 (0.91, 0.95) | |||
| rs244319§ | 53222874 | 0.98 | 0.04 | 1 | 2.19E-13 | 0.93 (0.91, 0.94) | |||
| rs244320§ | 53222920 | 0.98 | 0.04 | 1 | 2.19E-13 | 0.93 (0.91, 0.94) | |||
| rs244321§§ | 53223998 | 0.98 | 0.05 | 0.99 | 1.72E-13 | 0.92 (0.91, 0.94) | |||
| rs10432032§ | 53224088 | 0.98 | 0.04 | 1 | 2.47E-13 | 0.93 (0.91, 0.94) | |||
| rs244322§§ | 53224759 | 0.98 | 0.05 | 0.99 | 2.03E-13 | 0.93 (0.91, 0.94) | |||
| rs2628315§ | 53226622 | 0.99 | 0.10 | 1 | 9.02E-14 | 0.92 (0.90, 0.94) | |||
| rs244294§§ | 53228543 | 0.98 | 0.01 | 0.99 | 9.28E-13 | 0.93 (0.91, 0.95) |
aP-value, Odds ratio (OR) and 95% Confidence Interval (CI) for association with overall breast cancer risk, Estrogen Positive (ER+) and Estrogen Negative (ER−) disease.
bBuild 37 coordinates on chromosome 17.
cCorrelation (r2) and Relative Likelihood ratio (RL) with respect to lead SNP rs2787486
dIMPUTE2 info score.
eP-value, Odds ratio (OR) and 95% Confidence Interval (CI) for association with overall breast cancer risk.
§/§§Genotyped/Imputed marker.
*Lead SNP.