Table 8.
Height or body mass index (BMI) single-nucleotide polymorphisms (SNPs) statistically significantly associated (P < .05) with breast cancer risk in CIMBA
| Rsid | Chromosome | Position | Nearest gene | Reference allele in CIMBA | Effect allele in CIMBA | Effect allele frequency in CIMBA | Imputation quality* | Association with breast cancer in CIMBA |
||
|---|---|---|---|---|---|---|---|---|---|---|
| HR† | SE | P‡ | ||||||||
| Height | ||||||||||
| rs10744956 | 15 | 51 269 629 | AP4E1 | A | G | 0.80 | 0.98 | 0.096 | 0.023 | 3 × 10-5 |
| rs7740107 | 6 | 130 374 461 | L3MBTL3 | T | A | 0.75 | 1 | 0.081 | 0.021 | 1 × 10-4 |
| rs10995319 | 10 | 52 762 887 | PRKG1 | T | C | 0.23 | 0.96 | 0.075 | 0.022 | 6 × 10-4 |
| rs8058684 | 16 | 53 515 118 | RBL2 | G | A | 0.32 | 1 | 0.061 | 0.019 | .001 |
| rs11049611 | 12 | 28 600 244 | CCDC91 | C | T | 0.28 | 1 | −0.065 | 0.020 | .002 |
| rs8103992 | 19 | 19 665 643 | PBX4 | A | C | 0.78 | 0.98 | −0.064 | 0.022 | .004 |
| rs11618507 | 13 | 30 172 751 | SLC7A1 | G | T | 0.20 | 1 | 0.061 | 0.023 | .007 |
| rs11244750 | 10 | 127 673 877 | FANK1 | C | T | 0.35 | 0.83 | 0.055 | 0.021 | .009 |
| rs7701414 | 5 | 131 585 958 | PDLIM4 | A | G | 0.46 | 1 | 0.047 | 0.018 | .01 |
| rs7733195 | 5 | 172 994 624 | FAM44B | G | A | 0.37 | 1 | 0.049 | 0.019 | .01 |
| rs2306694 | 12 | 56 680 636 | CS | A | G | 0.06 | 1 | 0.096 | 0.038 | .01 |
| rs6435143 | 2 | 203 194 256 | NOP5/NOP | A | C | 0.56 | 0.84 | 0.050 | 0.020 | .01 |
| rs2284746 | 1 | 17 306 675 | MFAP2 | C | G | 0.50 | 0.84 | −0.049 | 0.020 | .01 |
| rs1797625 | 3 | 112 826 415 | C3orf17 | A | T | 0.36 | 0.91 | −0.049 | 0.020 | .01 |
| rs10495098 | 1 | 218 516 310 | TGFB2 | G | T | 0.41 | 0.84 | −0.051 | 0.021 | .01 |
| rs301901 | 5 | 37 046 626 | NIPBL | A | G | 0.45 | 0.93 | −0.046 | 0.019 | .02 |
| rs42039 | 7 | 92 244 422 | CDK6 | C | T | 0.26 | 1 | 0.051 | 0.021 | .02 |
| rs1576900 | 9 | 18 629 792 | ADAMTSL1 | G | A | 0.30 | 0.91 | 0.048 | 0.020 | .02 |
| rs891088 | 19 | 7 184 762 | INSR | A | G | 0.27 | 0.83 | 0.052 | 0.022 | .02 |
| rs273945 | 7 | 137 611 566 | CREB3L2 | A | C | 0.58 | 1 | −0.042 | 0.018 | .02 |
| rs2682587 | 19 | 44 082 429 | XRCC1 | C | A | 0.18 | 1 | 0.053 | 0.023 | .02 |
| rs1257763 | 9 | 96 893 945 | PTPDC1 | A | G | 0.96 | 0.72 | −0.118 | 0.053 | .03 |
| rs2888877 | 7 | 92 228 400 | CDK6 | T | C | 0.79 | 0.96 | −0.050 | 0.022 | .03 |
| rs8042424 | 15 | 101 762 539 | CHSY1 | C | T | 0.24 | 0.82 | −0.052 | 0.024 | .03 |
| rs7716219 | 5 | 54 955 071 | SLC38A9 | T | C | 0.70 | 0.97 | −0.044 | 0.020 | .03 |
| rs7727731 | 5 | 64 674 446 | ADAMTS6 | C | T | 0.12 | 0.67 | −0.076 | 0.035 | .03 |
| rs16964211 | 15 | 51 530 495 | CYP19A1 | G | A | 0.06 | 0.99 | −0.085 | 0.040 | .03 |
| rs11880992 | 19 | 2 176 403 | DOT1L | G | A | 0.42 | 0.95 | −0.040 | 0.019 | .03 |
| rs2302580 | 4 | 8 608 634 | CPZ | C | T | 0.44 | 1 | −0.040 | 0.019 | .03 |
| rs12538407 | 7 | 23 521 316 | IGF2BP3 | A | G | 0.39 | 0.99 | 0.040 | 0.019 | .03 |
| rs2300921 | 3 | 185 651 001 | SFRS10 | T | C | 0.41 | 0.98 | 0.041 | 0.019 | .03 |
| rs897080 | 2 | 44 774 202 | C2orf34 | C | T | 0.79 | 0.90 | −0.050 | 0.024 | .03 |
| rs4357716 | 11 | 69 163 161 | MYEOV | C | T | 0.14 | 1 | 0.055 | 0.026 | .03 |
| rs11659752 | 18 | 77 222 862 | NFATC1 | T | G | 0.30 | 0.82 | −0.045 | 0.021 | .04 |
| rs2166898 | 2 | 121 612 659 | GLI2 | G | A | 0.17 | 0.55 | 0.067 | 0.032 | .04 |
| rs6020202 | 20 | 48 634 821 | SNAI1 | G | A | 0.24 | 1 | 0.045 | 0.022 | .04 |
| rs3760318 | 17 | 29 247 715 | CENTA2 | G | A | 0.37 | 1 | −0.039 | 0.019 | .04 |
| rs6746356 | 2 | 174 815 898 | SP3 | A | C | 0.24 | 0.79 | 0.050 | 0.024 | .04 |
| rs9428104 | 1 | 118 855 587 | SPAG17 | A | G | 0.75 | 1 | 0.044 | 0.021 | .04 |
| rs2834442 | 21 | 35 690 786 | KCNE2 | T | A | 0.66 | 0.98 | −0.040 | 0.019 | .04 |
| rs1546391 | 3 | 114 697 457 | ZBTB20 | C | G | 0.09 | 0.97 | −0.069 | 0.033 | .04 |
| rs12926008 | 16 | 2 488 211 | CCNF | T | C | 0.65 | 0.53 | 0.054 | 0.026 | .04 |
| rs2123731 | 19 | 4 929 473 | UHRF1 | A | G | 0.27 | 0.70 | −0.049 | 0.024 | .04 |
| rs2289195 | 2 | 25 463 483 | DNMT3A | G | A | 0.41 | 0.65 | 0.046 | 0.023 | .04 |
| rs16834765 | 1 | 32 371 442 | PTP4A2 | C | T | 0.05 | 0.82 | 0.091 | 0.045 | .04 |
| rs10958476 | 8 | 57 095 808 | PLAG1 | T | C | 0.20 | 1 | 0.045 | 0.022 | .045 |
| rs17369123 | 1 | 172 355 841 | DNM3 | C | T | 0.16 | 0.98 | 0.049 | 0.025 | .046 |
| rs1415701 | 6 | 130 345 835 | L3MBTL3 | G | A | 0.26 | 1 | 0.041 | 0.021 | .047 |
| rs11152213 | 18 | 57 852 948 | MC4R | A | C | 0.23 | 0.99 | −0.043 | 0.022 | .047 |
| rs4802134 | 19 | 38 346 685 | SIPA1L3 | A | G | 0.75 | 1 | −0.041 | 0.021 | .049 |
| BMI | ||||||||||
| rs13107325 | 4 | 103 188 709 | SLC39A8 | C | T | 0.09 | 0.76 | 0.101 | 0.037 | .007 |
| rs10182181 | 2 | 25 150 296 | ADCY3 | A | G | 0.45 | 0.64 | −0.056 | 0.023 | .02 |
| rs7903146 | 10 | 114 758 349 | TCF7L2 | C | T | 0.30 | 1 | 0.044 | 0.020 | .03 |
| rs9925964 | 16 | 31 129 895 | KAT8 | A | G | 0.39 | 0.99 | −0.040 | 0.019 | .03 |
| rs4740619 | 9 | 15 634 326 | C9orf93 | T | C | 0.46 | 0.97 | 0.040 | 0.019 | .03 |
| rs1558902 | 16 | 53 803 574 | FTO | T | A | 0.42 | 1.00 | −0.038 | 0.018 | .04 |
| rs2207139 | 6 | 50 845 490 | TFAP2B | A | G | 0.16 | 0.99 | 0.049 | 0.024 | .04 |
*
Imputation quality of 1 indicates genotyped SNPs. Rsid = Reference SNP cluster ID; CIMBA = Consortium of Investigators of Modifiers of BRCA1/2; HR = log hazard ratio; SE = standard error.
†
Per-allele association with breast cancer was adjusted for principal components, birth cohort, menopausal status, age at menopause, country of enrollment, and mutation status in weighted Cox models.
‡
P values were calculated using weighted Cox models. All P values are two-sided.