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. 2022 Apr 12;24:27. doi: 10.1186/s13058-022-01524-0

Table 2.

Association between MD significant loci and breast cancer risk (overall, ER-positive, and ER-negative)

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)