Breast cancer index SNPs: original GWAS results and results from the BWHS
Coded allele/reference | Coded allele | BWHS results: OR (95% CI), P value | |||||
---|---|---|---|---|---|---|---|
Chromosome | SNP | GWAS OR | allele | frequency | All cases | ER+/PR+ | ER−/PR− |
1p11.2 | rs112494331 | 1.16 | C/T | 0.13 | 0.97 (0.80–1.18), 0.76 | 1.15 (0.86–1.56), 0.35 | 0.76 (0.52–1.13), 0.17 |
2q35 | rs133870422 | 1.20 | A/G | 0.73 | 1.06 (0.93–1.20), 0.38 | 1.05 (0.85–1.30), 0.65 | 1.06 (0.83–1.35), 0.63 |
3p24.1 | rs49737683 | 1.11 | T/C | 0.37 | 0.92 (0.82–1.03), 0.16 | 0.98 (0.81–1.18), 0.82 | 0.89 (0.71–1.11), 0.31 |
5p12 | rs44150844 | 1.16 | T/C | 0.61 | 1.10 (0.98–1.22), 0.10 | 1.19 (0.98–1.43), 0.07 | 0.94 (0.76–1.16), 0.58 |
5p15.33 (ER−) | rs100696905 | 1.18 | T/C | 0.57 | 1.05 (0.94–1.17), 0.34 | 1.02 (0.85–1.21), 0.86 | 1.29 (1.04–1.59), 0.02 |
5q11.2a | rs168861651 | 1.23 | G/T | 0.29 | 1.02 (0.89–1.17), 0.79 | 1.20 (0.96–1.50), 0.10 | 0.94 (0.73–1.21), 0.63 |
5q11.2 | rs8893126 | 1.13 | C/A | 0.32 | 1.03 (0.92–1.16), 0.61 | 1.08 (0.89–1.30), 0.43 | 0.94 (0.75–1.18), 0.61 |
6q22.33 | rs21803417 | 1.41 | G/A | 0.32 | 1.03 (0.90–1.18), 0.64 | 1.15 (0.93–1.42), 0.21 | 0.91 (0.71–1.17), 0.47 |
6q25.1 | rs20462108 | 1.29 | A/G | 0.61 | 1.10 (0.97–1.24), 0.13 | 1.16 (0.94–1.43), 0.17 | 1.12 (0.87–1.42), 0.38 |
8q24.21 | rs132816156 | 1.08 | C/T | 0.43 | 0.94 (0.85–1.05), 0.30 | 0.93 (0.77–1.11), 0.41 | 0.91 (0.74–1.13), 0.40 |
9p21.3 | rs10119709 | 1.09 | T/G | 0.34 | 1.01 (0.90–1.14), 0.81 | 0.96 (0.80–1.16), 0.67 | 0.90 (0.72–1.12), 0.35 |
9q31.2 | rs86568610 | 0.89 | G/T | 0.47 | 1.11 (0.99–1.24), 0.07 | 1.11 (0.92–1.34), 0.29 | 1.10 (0.89–1.36), 0.40 |
10p15.1 | rs23802059 | 0.94 | T/C | 0.60 | 1.03 (0.91–1.15), 0.65 | 1.13 (0.92–1.38), 0.23 | 1.08 (0.86–1.36), 0.50 |
10q21.2a | rs109951909 | 0.86 | A/G | 0.16 | 0.98 (0.85–1.13), 0.81 | 0.91 (0.72–1.15), 0.44 | 1.01 (0.77–1.32), 0.96 |
10q22.3 | rs7040109 | 1.07 | A/G | 0.10 | 1.24 (1.04–1.47), 0.01 | 1.27 (0.96–1.66), 0.09 | 1.52 (1.12–2.08), 0.01 |
10q26.13 | rs29815791 | 1.17 | T/C | 0.60 | 1.04 (0.92–1.18), 0.48 | 1.28 (1.04–1.59), 0.02 | 1.08 (0.85–1.36), 0.56 |
10q26.13 | rs121964811 | 1.32 | G/A | 0.42 | 1.01 (0.91–1.12), 0.82 | 1.07 (0.90–1.27), 0.44 | 0.99 (0.80–1.21), 0.89 |
10q26.13 | rs29815826 | 1.26 | A/G | 0.49 | 1.05 (0.92–1.19), 0.46 | 1.14 (0.90–1.45), 0.28 | 1.03 (0.80–1.31), 0.84 |
11p15.5 | rs38171986 | 1.07 | C/T | 0.11 | 1.21 (1.01–1.46), 0.04 | 1.22 (0.90–1.65), 0.21 | 1.18 (0.82–1.70), 0.37 |
11q13.3 | rs6143679 | 1.15 | T/C | 0.14 | 1.04 (0.88–1.21), 0.66 | 0.92 (0.70–1.22), 0.58 | 0.97 (0.71–1.33), 0.85 |
14q24.1 | rs9997371 | 1.06 | C/T | 0.95 | 0.88 (0.68–1.13), 0.32 | 0.71 (0.48–1.06), 0.10 | 1.18 (0.68–2.06), 0.56 |
16q12.1 | rs38036626 | 1.20 | T/C | 0.51 | 0.96 (0.83–1.10), 0.54 | 0.99 (0.78–1.26), 0.94 | 0.95 (0.74–1.22), 0.69 |
17q23.2 | rs65049503 | 0.95 | A/G | 0.35 | 0.95 (0.85–1.07), 0.42 | 1.10 (0.92–1.33), 0.29 | 0.99 (0.79–1.23), 0.90 |
19p13.11 (ER−) | rs817012 | 1.26 | A/G | 0.19 | 1.01 (0.88–1.16), 0.87 | 1.00 (0.80–1.25), 0.99 | 1.30 (1.01–1.68), 0.04 |
NOTE: ORs adjusted for age, geographic region of residence, and country of birth.
↵aProxies: GWAS: rs16886165; Proxy: rs16886164 (r2 = 1.0 in HapMap YRI) and GWAS: rs10995190; Proxy: rs10995189 (r2 = 1.0 in HapMap YRI).