Table 2.
Region | rsID | CHR | Position1 | Allele2 | MD phenotype | Overall breast cancer4 | ER-positive breast cancer4 | ER-negative breast cancer4 | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Z-score | p Value | Beta | SE3 | p Value | Beta | SE | p Value | Beta | SE | p Value | |||||
DA | |||||||||||||||
1q21.2 | rs11205303 | 1 | 149,906,413 | T/C | − 6.772 | 1.25 E−11 | 0.050 | 0.006 | 1.05 E−14 | 0.057 | 0.008 | 8.25 E−14 | 0.040 | 0.012 | 6.67 E−04 |
2q14.2 | rs17625845 | 2 | 121,089,731 | T/C | 7.949 | 1.87 E−15 | − 0.046 | 0.008 | 1.73 E−08 | − 0.032 | 0.010 | 8.94 E−04 | − 0.114 | 0.015 | 1.13 E−13 |
4q13.3 | rs6851733 | 4 | 75,518,708 | T/C | 6.874 | 6.23 E−12 | 0.009 | 0.008 | 2.20 E−01 | 0.001 | 0.009 | 9.58 E−01 | 0.018 | 0.014 | 1.97 E−01 |
5q11.2 | rs150249911 | 5 | 52,119,132 | A/G | − 5.928 | 3.06 E−09 | 0.038 | 0.027 | 1.49 E−01 | 0.048 | 0.032 | 1.33 E−01 | 0.053 | 0.050 | 2.87 E−01 |
5q23.2 | rs335189 | 5 | 122,446,856 | C/G | 6.655 | 2.84 E−11 | 0.027 | 0.007 | 8.38 E−05 | 0.026 | 0.008 | 1.46 E−03 | 0.012 | 0.012 | 3.32 E−01 |
5q35.1 | rs2042239 | 5 | 169,566,329 | A/G | 6.485 | 8.87 E−09 | 0.028 | 0.006 | 9.80 E−06 | 0.037 | 0.008 | 1.02 E−06 | 0.003 | 0.012 | 7.72 E−01 |
6q25.1 | rs9397436 | 6 | 151,952,002 | A/G | 7.951 | 1.86 E−15 | 0.184 | 0.012 | 2.00 E−54 | 0.138 | 0.014 | 1.71 E−22 | 0.272 | 0.021 | 4.01 E−40 |
7p11.2 | rs10155920 | 7 | 55,308,930 | T/C | 5.755 | 8.66 E−09 | 0.011 | 0.008 | 2.01 E−01 | 0.012 | 0.010 | 2.50 E−01 | − 0.001 | 0.015 | 9.35 E−01 |
8q24.13 | rs58847541 | 8 | 124,610,166 | A/G | 5.994 | 2.05 E−09 | − 0.063 | 0.009 | 4.33 E−13 | − 0.055 | 0.010 | 1.17 E−07 | − 0.077 | 0.016 | 1.00 E−06 |
10q21.2 | rs10995187 | 10 | 64,273,026 | A/G | 8.933 | 4.14 E−19 | 0.129 | 0.009 | 2.85 E−49 | 0.134 | 0.011 | 1.74 E−37 | 0.092 | 0.016 | 8.18 E−09 |
11p15.5 | rs4980383 | 11 | 1,902,097 | T/C | − 7.228 | 4.90 E−13 | − 0.076 | 0.006 | 4.36 E−34 | − 0.083 | 0.007 | 6.20 E−29 | − 0.051 | 0.011 | 8.31 E−06 |
12p12.1 | rs11836164 | 12 | 26,446,625 | T/C | 6.028 | 1.66 E−09 | − 0.013 | 0.007 | 6.81 E−02 | − 0.003 | 0.009 | 7.32 E−01 | − 0.025 | 0.013 | 5.78 E−02 |
12p11.2 | rs7297051 | 12 | 28,174,817 | T/C | 6.166 | 7.01 E−10 | 0.120 | 0.007 | 1.73 E−60 | 0.110 | 0.009 | 3.49 E−36 | 0.140 | 0.014 | 6.45 E−25 |
12q23.2 | rs833472 | 12 | 103,005,100 | T/C | 7.134 | 9.76 E−13 | 0.078 | 0.020 | 7.59 E−05 | 0.085 | 0.024 | 3.04 E−04 | 0.049 | 0.037 | 1.80 E−01 |
19q13.33 | rs1231281 | 19 | 49,239,200 | A/G | 6.860 | 6.87 E−12 | − 0.008 | 0.006 | 2.30 E−01 | − 0.010 | 0.008 | 2.07 E−01 | − 0.002 | 0.012 | 8.72 E−01 |
20q13.13 | rs17789629 | 20 | 48,892,374 | A/C | − 5.478 | 4.30 E−08 | − 0.011 | 0.008 | 1.32 E−01 | − 0.001 | 0.009 | 9.48 E−01 | − 0.034 | 0.014 | 1.44 E−02 |
22q13.1 | rs34066050 | 22 | 38,612,604 | A/G | − 5.534 | 3.14 E−08 | − 0.034 | 0.006 | 5.58 E−08 | − 0.042 | 0.008 | 2.35 E−08 | − 0.010 | 0.011 | 3.78 E−01 |
22q13.2 | rs6001939 | 22 | 40,892,794 | T/C | 8.791 | 1.48 E−18 | − 0.117 | 0.010 | 1.31 E−32 | − 0.106 | 0.012 | 1.20 E−19 | − 0.115 | 0.018 | 8.77 E−11 |
NDA | |||||||||||||||
1p12 | rs78395856 | 1 | 119,495,096 | A/C | 5.525 | 3.29 E−08 | − 0.037 | 0.018 | 3.46 E−02 | − 0.044 | 0.021 | 3.31 E−02 | − 0.037 | 0.031 | 2.35 E−01 |
5q14.1 | rs413472 | 5 | 80,930,992 | T/C | 5.551 | 2.84 E−08 | 0.004 | 0.006 | 5.49 E−01 | 0.010 | 0.008 | 2.11 E−01 | − 0.012 | 0.012 | 3.18 E−01 |
8p11.23 | rs16885613 | 8 | 36,848,357 | T/C | − 12.788 | 1.92 E−37 | − 0.076 | 0.008 | 1.58 E−20 | − 0.070 | 0.010 | 5.06 E−13 | − 0.099 | 0.015 | 2.38 E−11 |
10q21.2 | rs2138555 | 10 | 64,220,494 | A/G | 5.900 | 3.63 E−09 | − 0.044 | 0.006 | 1.48 E−12 | − 0.047 | 0.008 | 3.89 E−10 | − 0.030 | 0.011 | 8.58 E−03 |
12q22 | rs61938093 | 12 | 96,026,737 | T/C | − 6.266 | 3.72 E−10 | 0.089 | 0.007 | 1.34 E−38 | 0.091 | 0.008 | 5.53 E−28 | 0.069 | 0.013 | 3.39 E−08 |
22q13.2 | rs73169097 | 22 | 41,027,870 | T/C | 6.012 | 1.83 E−09 | − 0.120 | 0.010 | 1.98 E−34 | − 0.110 | 0.012 | 5.34 E−21 | − 0.117 | 0.018 | 4.33 E−11 |
PMD | |||||||||||||||
1q21.2 | rs1868992 | 1 | 149,908,108 | A/G | 5.517 | 3.44 E−08 | − 0.027 | 0.007 | 1.64 E−04 | − 0.029 | 0.008 | 7.09 E−04 | − 0.030 | 0.013 | 1.98 E−02 |
5q23.2 | rs335189 | 5 | 122,446,856 | C/G | 6.196 | 5.78 E−10 | 0.027 | 0.007 | 8.38 E−05 | 0.026 | 0.008 | 1.46 E−03 | 0.012 | 0.012 | 3.32 E−01 |
5q31.1 | rs76876329 | 5 | 131,237,759 | T/C | 5.530 | 3.21 E−08 | 0.012 | 0.009 | 1.87 E−01 | 0.007 | 0.011 | 5.11 E−01 | 0.014 | 0.017 | 3.99 E−01 |
5q33.3 | rs11745230 | 5 | 158,171,008 | T/G | − 5.793 | 6.90 E−09 | − 0.064 | 0.008 | 1.30 E−14 | − 0.065 | 0.010 | 3.47 E−11 | − 0.068 | 0.015 | 6.72 E−06 |
5q35.1 | rs2112670 | 5 | 169,557,594 | A/G | − 5.598 | 2.17 E−08 | − 0.013 | 0.006 | 4.71 E−02 | − 0.023 | 0.008 | 2.83 E−03 | 0.012 | 0.012 | 3.03 E−01 |
6p22.3 | rs3819405 | 6 | 16,399,557 | T/C | 5.806 | 6.42 E−09 | 0.040 | 0.007 | 1.25 E−08 | 0.045 | 0.008 | 5.38 E−08 | 0.027 | 0.013 | 3.45 E−02 |
6q25.1 | rs4897107 | 6 | 149,601,591 | T/C | 6.842 | 7.81 E−12 | 0.036 | 0.008 | 5.98 E−06 | 0.049 | 0.010 | 3.55 E−07 | 0.018 | 0.015 | 2.15 E−01 |
6q25.1 | rs9397436 | 6 | 151,952,002 | A/G | 7.303 | 2.81 E−13 | 0.184 | 0.012 | 2.00 E−54 | 0.138 | 0.014 | 1.71 E−22 | 0.272 | 0.021 | 4.01 E−40 |
8p11.23 | rs10087804 | 8 | 36,858,140 | C/G | 6.282 | 3.35 E−10 | − 0.077 | 0.008 | 8.34 E−21 | − 0.071 | 0.010 | 3.64 E−13 | − 0.098 | 0.015 | 6.55 E−11 |
10q21.2 | rs10995187 | 10 | 64,273,026 | A/G | 10.424 | 1.92 E−25 | 0.129 | 0.009 | 2.85 E−49 | 0.134 | 0.011 | 1.74 E−37 | 0.092 | 0.016 | 8.18 E−09 |
11p15.5 | rs4980383 | 11 | 1,902,097 | T/C | − 5.860 | 4.62 E−09 | − 0.076 | 0.006 | 4.36 E−34 | − 0.083 | 0.007 | 6.20 E−29 | − 0.051 | 0.011 | 8.31 E−06 |
12q23.2 | rs61941038 | 12 | 102,989,316 | A/T | − 6.477 | 9.37 E−11 | − 0.075 | 0.020 | 1.47 E−04 | − 0.085 | 0.024 | 3.07 E−04 | − 0.032 | 0.037 | 3.86 E−01 |
15q26.1 | rs4499190 | 15 | 94,275,057 | G/C | − 5.654 | 1.57 E−08 | − 0.001 | 0.007 | 8.90 E−01 | 0.001 | 0.009 | 8.71 E−01 | − 0.008 | 0.013 | 5.69 E−01 |
16q12.2 | rs11646715 | 16 | 53,824,007 | A/G | 7.183 | 6.84 E−13 | 0.046 | 0.006 | 6.89 E−13 | 0.042 | 0.008 | 4.14 E−08 | 0.055 | 0.012 | 1.60 E−06 |
19q13.33 | rs12462111 | 19 | 49,171,306 | T/C | 5.847 | 5.02 E−09 | − 0.017 | 0.007 | 1.03 E−02 | − 0.015 | 0.008 | 5.32 E−02 | − 0.011 | 0.012 | 3.51 E−01 |
1Genomic positions based on build GRCh37/hg19
2Coded as reference allele/effect allele
3Standard error
4Beta estimates, SEs, and p values of overall, ER-positive, and ER-negative breast cancer were based on the GWAS results published by the Breast Cancer Association Consortium (BCAC)