Table 1.

Associations of 74 Breast Cancer Risk Variants with Risk of Overall Breast Cancer and Breast Cancer Subtype in Women of African Ancestry.

					Initial GWAS			META Analysis Results
SNPID	Chr	Positiona	Allelesb	Nearest Gene	RAFc	OR (95% CI)	P	RAFc	OR (95% CI)	P	ER+ OR (95% CI)	ER+ P	ER− OR (95% CI)	ER− P	Phet
rs616488	1	10566215	A/G	PEX14	0.67	1.06(1.04–1.09)	2.0×10−10	0.86	1.07(0.99–1.16)	0.080	1.04 (0.94–1.15)	0.43	1.11 (0.98–1.25)	0.10	0.29
rs12022378	1	114448389	A/G	PTPN22:BCL2L15: AP4B1:DCLRE1B: HIPK1	0.17	1.07(1.04–1.09)	1.8×10−8	0.047	0.99(0.87–1.14)	0.94	0.98 (0.83–1.16)	0.80	1.00 (0.81–1.22)	0.96	0.85
rs11249433	1	121280613	G/A	NA	0.41	1.09(1.07–1.11)	2.0×10−26	0.14	1.03(0.95–1.11)	0.51	1.03 (0.93–1.14)	0.52	1.02 (0.91–1.15)	0.73	0.21
rs6678914	1	202187176	G/A	LGR6	0.59	1.00(0.98–1.02)	0.86	0.66	1.01(0.95–1.07)	0.68	0.98 (0.91–1.05)	0.54	1.06 (0.97–1.15)	0.19	0.92
rs4245739	1	204518842	C/A	MDM4	0.26	1.02(1.00–1.04)	0.080	0.24	1.02(0.97–1.09)	0.41	0.96 (0.89–1.03)	0.27	1.14 (1.05–1.25)	3.0×10−3	0.030
rs12710696	2	19320803	A/G	NA	0.36	1.04(1.01–1.06)	9.7×10−4	0.52	1.05(1.00–1.10)	0.048	1.05 (0.98–1.12)	0.13	1.07 (0.99–1.15)	0.11	0.37
rs4849887	2	121245122	G/A	NA	0.90	1.10(1.06–1.14)	3.7×10−11	0.71	1.09(1.03–1.16)	1.4×10−3	1.11 (1.03–1.19)	4.9×10−3	1.14 (1.05–1.24)	2.5×10−3	0.46
rs2016394	2	172972971	G/A	METAP1D:DLX1: DLX2	0.52	1.05(1.03–1.08)	1.2×10−8	0.72	1.02(0.96–1.08)	0.58	1.04 (0.96–1.12)	0.32	1.01 (0.92–1.10)	0.83	0.75
rs1550623	2	174212894	A/G	CDCA7	0.84	1.06(1.03–1.09)	3.0×10−8	0.70	1.02(0.97–1.08)	0.37	1.06 (0.99–1.14)	0.11	1.02 (0.94–1.11)	0.65	0.047
rs1830298e	2	202181247	C/T	CASP8/ALS2CR12	0.29	1.05(1.03–1.07)	1.0×10−5	0.23	1.02(0.96–1.09)	0.43	0.96 (0.88–1.04)	0.28	0.98 (0.89–1.07)	0.63	0.98
rs4442975e	2	217920769	G/T	IGFBP5	0.5	1.15(1.12–1.16)	3.9×10−46	0.63	1.07(1.02–1.13)	8.2×10−3	1.13 (1.06–1.21)	5.1×10−4	1.01 (0.93–1.10)	0.74	0.11
rs34005590e	2	217963060	C/A	IGFBP5	0.95	1.22(1.16–1.28)	5.6×10−17	0.89	1.08(0.99–1.17)	0.083	0.87 (0.77–0.97)	0.014	1.06 (0.93–1.21)	0.40	0.38
rs16857609	2	218296508	A/G	DIRC3	0.26	1.08(1.06–1.10)	1.1×10−15	0.24	1.13(1.07–1.20)	3.2×10−5	1.15 (1.07–1.24)	2.1×10−4	1.15 (1.05–1.25)	2.6×10−3	0.49
rs6762644	3	4742276	G/A	ITPR1:EGOT	0.40	1.07(1.04–1.09)	2.2×10−12	0.46	1.01(0.96–1.07)	0.63	1.05 (0.98–1.12)	0.18	0.96 (0.89–1.03)	0.27	0.39
rs4973768	3	27416013	A/G	SLC4A7	0.48	1.10(1.08–1.12)	2.3×10−30	0.36	1.01(0.96–1.06)	0.76	1.02 (0.95–1.09)	0.59	0.96 (0.88–1.04)	0.31	0.35
rs12493607	3	30682939	G/C	TGFBR2	0.35	1.06(1.03–1.08)	2.3×10−8	0.14	1.03(0.96–1.11)	0.40	1.06 (0.96–1.17)	0.24	0.99 (0.88–1.11)	0.87	0.85
rs9790517	4	106084778	A/G	TET2	0.23	1.05(1.03–1.08)	4.2×10−8	0.09	0.94(0.85–1.04)	0.22	0.88 (0.77–1.00)	0.051	0.94 (0.80–1.10)	0.42	0.082
rs6828523	4	175846426	C/A	ADAM29	0.87	1.11(1.09–1.15)	3.5×10−16	0.65	1.05(0.99–1.10)	0.096	1.06 (0.99–1.13)	0.099	1.05 (0.97–1.14)	0.21	0.97
rs10069690	5	1279790	A/G	TERT	0.27	1.06(1.04–1.09)	7.2×10−9	0.56	1.12(1.07–1.18)	8.4×10−6	1.06 (0.99–1.13)	0.097	1.31 (1.21–1.42)	5.5×10−11	0.88
rs10941679	5	44706498	G/A	NA	0.27	1.13(1.10–1.15)	1.7×10−37	0.21	1.02(0.96–1.09)	0.52	1.08 (1.00–1.17)	0.059	0.93 (0.84–1.02)	0.14	0.65
rs62355902e	5	56053723	T/A	MAP3K1	0.16	1.21(1.19–1.24)	9.5×10−49	0.10	1.08(0.99–1.18)	0.070	1.18 (1.06–1.31)	3.2×10−3	0.95 (0.83–1.09)	0.46	0.64
rs10472076	5	58184061	G/A	RAB3C	0.38	1.05(1.03–1.07)	2.9×10−8	0.28	0.96(0.91–1.02)	0.16	0.95 (0.89–1.03)	0.21	0.98 (0.90–1.07)	0.64	0.81
rs1353747	5	58337481	A/C	PDE4D	0.91	1.09(1.05–1.12)	2.5×10−8	0.98	0.93(0.77–1.13)	0.45	0.89 (0.71–1.13)	0.36	0.82 (0.61–1.09)	0.17	0.82
rs1432679	5	158244083	G/A	EBF1	0.43	1.07(1.05–1.09)	2.0×10−14	0.79	1.09(1.02–1.16)	0.011	1.04 (0.95–1.13)	0.41	1.22 (1.10–1.35)	1.2×10−4	0.065
rs11242675	6	1318878	A/G	FOXQ1	0.61	1.06(1.04–1.09)	7.1×10−9	0.52	1.01(0.96–1.06)	0.82	1.01 (0.94–1.07)	0.88	1.04 (0.96–1.12)	0.35	0.19
rs204247	6	13722523	G/A	RANBP9	0.43	1.05(1.03–1.07)	8.3×10−9	0.34	1.06(1.01–1.12)	0.024	1.07 (1.00–1.14)	0.064	1.05 (0.97–1.14)	0.21	0.069
rs17529111	6	82128386	G/A	NA	0.22	1.06(1.04–1.09)	4.3×10−9	0.08	0.98(0.88–1.08)	0.68	1.00 (0.88–1.14)	0.99	0.96 (0.82–1.12)	0.59	0.070
rs9485372	6	149608874	G/A	TAB2	0.55	1.11(1.09–1.15)	3.8×10−12	0.80	1.02(0.96–1.09)	0.50	1.04 (0.95–1.14)	0.37	0.98 (0.88–1.08)	0.63	0.81
rs3757322e	6	151942194	G/T	ESR1	0.33	1.09(1.07–1.11)	8.1×10−17	0.48	1.04(0.99–1.09)	0.16	1.00 (0.93–1.06)	0.89	1.08 (1.00–1.17)	0.054	0.023
rs9397437e	6	151952332	A/G	ESR1	0.07	1.20(1.16–1.25)	4.0×10−22	0.047	1.08(0.96–1.22)	0.19	1.02 (0.87–1.19)	0.82	1.16 (0.97–1.38)	0.097	0.99
rs720475	7	144074929	G/A	ARHGEF5:NOBOX	0.75	1.06(1.04–1.09)	7.0×10−11	0.88	1.00(0.92–1.08)	0.98	1.03 (0.93–1.14)	0.58	1.00 (0.88–1.13)	0.95	0.52
rs9693444	8	29509616	A/C	NA	0.32	1.07(1.05–1.09)	9.2×10−14	0.37	1.04(0.99–1.10)	0.11	1.03 (0.97–1.11)	0.33	1.04 (0.96–1.12)	0.36	0.88
rs6472903	8	76230301	A/C	NA	0.82	1.10(1.08–1.12)	1.7×10−17	0.90	1.07(0.98–1.16)	0.13	1.05 (0.94–1.17)	0.40	1.01 (0.88–1.14)	0.93	0.86
rs2943559	8	76417937	G/A	HNF4G	0.070	1.13(1.09–1.17)	5.7×10−15	0.21	1.06(1.00–1.12)	0.071	1.03 (0.95–1.12)	0.46	1.11 (1.01–1.21)	0.033	0.63
rs13281615	8	128355618	G/A	NA	0.42	1.09(1.07–1.12)	9.6×10−28	0.43	1.03(0.98–1.08)	0.21	1.04 (0.97–1.11)	0.24	0.99 (0.92–1.07)	0.84	0.56
rs11780156	8	129194641	A/G	MIR1208	0.16	1.07(1.04–1.10)	3.4×10−11	0.05	0.91(0.80–1.03)	0.14	0.90 (0.76–1.06)	0.21	0.98 (0.81–1.20)	0.86	0.60
rs1011970	9	22062134	A/C	CDKN2A/B	0.17	1.06(1.03–1.08)	5.5×10−8	0.31	1.04(0.99–1.10)	0.15	1.07 (1.00–1.15)	0.055	0.97 (0.90–1.06)	0.50	0.37
rs10759243	9	110306115	A/C	NA	0.39	1.06(1.03–1.08)	1.2×10−8	0.58	0.99(0.94–1.04)	0.75	1.02 (0.96–1.10)	0.49	0.96 (0.88–1.04)	0.28	0.71
rs13294895e	9	110837176	T/C	NA	0.18	1.09(1.06–1.12)	3.0×10−11	0.048	1.02(0.89–1.17)	0.76	1.06 (0.89–1.25)	0.53	1.00 (0.81–1.23)	0.99	0.63
rs676256e	9	110895353	T/C	NA	0.62	1.11(1.09–1.13)	1.6×10−25	0.75	1.07(1.01–1.14)	0.018	1.08 (1.00–1.16)	0.061	1.05 (0.96–1.15)	0.26	0.39
rs2380205	10	5886734	G/A	ANKRD16	0.56	1.02(1.00–1.04)	2.1×10−3	0.42	0.98(0.94–1.04)	0.54	0.95 (0.89–1.02)	0.16	0.99 (0.91–1.07)	0.75	0.99
rs7072776	10	22032942	A/G	MLLT10:DNAJC1	0.29	1.07(1.05–1.09)	4.3×10−14	0.50	1.03(0.98–1.09)	0.19	1.02 (0.96–1.09)	0.48	1.07 (0.99–1.16)	0.079	0.59
rs11814448	10	22315843	C/A	DNAJC1	0.020	1.26(1.18–1.35)	9.3×10−16	0.59	1.04(0.98–1.10)	0.16	1.03 (0.96–1.11)	0.43	1.09 (1.00–1.19)	0.047	0.54
rs10995190	10	64278682	G/A	ZNF365	0.85	1.16(1.14–1.19)	1.3×10−36	0.84	0.96(0.90–1.03)	0.28	0.99 (0.91–1.08)	0.84	0.94 (0.85–1.04)	0.26	0.80
rs704010	10	80841148	A/G	ZMIZ1	0.39	1.08(1.06–1.10)	7.4×10−22	0.11	1.10(1.00–1.21)	0.043	1.07 (0.95–1.20)	0.26	1.08 (0.94–1.25)	0.27	0.78
rs7904519	10	114773927	G/A	TCF7L2	0.46	1.06(1.04–1.08)	3.1×10−8	0.78	1.06(0.99–1.13)	0.087	1.07 (0.98–1.16)	0.12	1.11 (1.01–1.23)	0.038	0.11
rs11199914	10	123093901	G/A	NA	0.68	1.05(1.04–1.08)	1.9×10−8	0.49	1.02(0.96–1.07)	0.53	1.03 (0.97–1.11)	0.34	0.93 (0.86–1.01)	0.069	0.66
rs2981579	10	123337335	A/G	FGFR2	0.43	1.27(1.24–1.29)	1.9×10−170	0.59	1.14(1.08–1.21)	7.2×10−6	1.16 (1.09–1.24)	9.9×10−6	1.09 (1.01–1.18)	0.027	0.84
rs3817198	11	1909006	G/A	LSP1	0.32	1.07(1.05–1.09)	1.5×10−11	0.17	0.99(0.92–1.06)	0.78	1.01 (0.92–1.10)	0.83	0.94 (0.85–1.05)	0.29	2.8×10−3
rs3903072	11	65583066	C/A	DKFZp761E198: OVOL1:SNX32:CFL1: MUS81	0.53	1.05(1.04–1.08)	8.6×10−12	0.81	0.98(0.92–1.06)	0.67	0.99 (0.91–1.09)	0.91	0.93 (0.84–1.04)	0.21	0.28
rs614367	11	69328764	A/G	NA	0.16	1.21(1.18–1.24)	2.2×10−63	0.13	1.03(0.96–1.11)	0.46	1.01 (0.92–1.11)	0.84	0.95 (0.85–1.07)	0.42	0.30
rs11820646	11	129461171	G/A	NA	0.59	1.05(1.03–1.08)	1.1×10–9	0.77	0.97(0.91–1.04)	0.46	0.93 (0.86–1.01)	0.088	0.97 (0.88–1.06)	0.47	0.62
rs12422552	12	14413931	C/G	NA	0.26	1.05(1.03–1.07)	3.7×10−8	0.41	1.01(0.96–1.07)	0.65	1.03 (0.97–1.11)	0.33	1.00 (0.92–1.08)	0.90	0.95
rs7297051e	12	28174817	C/T	NA	0.76	1.14(1.11–1.16)	4.0×10−28	0.88	1.05(0.97–1.13)	0.24	1.08 (0.98–1.19)	0.14	1.06 (0.94–1.19)	0.35	0.90
rs17356907	12	96027759	A/G	NTN4	0.70	1.10(1.08–1.12)	1.8×10−22	0.79	1.06(1.00–1.13)	0.057	1.10 (1.01–1.20)	0.022	1.01 (0.92–1.11)	0.81	0.21
rs1292011	12	115836522	A/G	NA	0.59	1.09(1.06–1.11)	8.9×10−22	0.55	0.98(0.94–1.03)	0.52	1.01 (0.94–1.07)	0.85	0.93 (0.86–1.00)	0.052	0.31
rs2236007	14	37132769	G/A	PAX9:SLC25A21	0.79	1.08(1.05–1.10)	1.7×10−13	0.92	1.00(0.91–1.11)	0.93	0.98 (0.86–1.11)	0.72	0.94 (0.80–1.09)	0.39	0.094
rs2588809	14	68660428	A/G	RAD51L1	0.16	1.08(1.05–1.11)	1.4×10−10	0.28	1.00(0.95–1.06)	0.88	1.06 (0.98–1.14)	0.12	0.96 (0.89–1.05)	0.40	0.73
rs999737	14	69034682	G/A	RAD51L1	0.78	1.09(1.06–1.11)	2.5×10−19	0.94	1.05(0.92–1.19)	0.49	1.06 (0.90–1.24)	0.52	1.03 (0.84–1.26)	0.80	0.37
rs941764	14	91841069	G/A	CCDC88C	0.34	1.06(1.04–1.09)	3.7×10−10	0.69	1.02(0.96–1.08)	0.52	1.01 (0.94–1.09)	0.77	1.02 (0.93–1.11)	0.67	0.017
rs3803662	16	52586341	A/G	TOX3	0.29	1.24(1.21–1.27)	2.1×10−114	0.50	1.00(0.95–1.05)	0.89	1.01 (0.95–1.08)	0.73	0.98 (0.91–1.06)	0.67	0.091
rs17817449	16	53813367	A/C	MIR1972-2:FTO	0.60	1.08(1.05–1.10)	6.4×10−14	0.61	1.07(1.01–1.12)	0.012	1.08 (1.01–1.15)	0.029	1.04 (0.96–1.13)	0.32	0.86
rs11075995	16	53855291	A/T	FTO	0.24	1.04(1.02–1.06)	7.5×10−4	0.18	1.04(0.98–1.11)	0.23	1.04 (0.96–1.13)	0.36	1.05 (0.95–1.16)	0.37	0.81
rs13329835	16	80650805	G/A	CDYL2	0.22	1.08(1.05–1.10)	2.1×10−16	0.62	1.04(0.98–1.09)	0.20	1.07 (1.00–1.15)	0.064	1.01 (0.93–1.10)	0.74	0.087
rs6504950	17	53056471	G/A	COX11	0.73	1.06(1.04–1.09)	2.3×10−13	0.64	1.03(0.98–1.09)	0.23	1.04 (0.97–1.11)	0.29	1.00 (0.92–1.08)	0.95	0.45
rs527616	18	24337424	C/G	NA	0.62	1.05(1.03–1.08)	1.6×10−10	0.85	1.01(0.94–1.09)	0.78	1.01 (0.91–1.11)	0.86	0.95 (0.85–1.07)	0.43	0.092
rs1436904	18	24570667	A/C	CHST9	0.60	1.04(1.02–1.06)	3.2×10−8	0.74	1.00(0.94–1.06)	0.97	1.00 (0.93–1.08)	0.94	0.97 (0.89–1.06)	0.53	0.71
rs67397200e	19	17401404	G/C	-	0.3	1.03(1.01–1.05)	2.2×10−3	0.26	1.13(1.06–1.19)	3.1×10−5	1.04 (0.97–1.12)	0.29	1.19 (1.09–1.30)	6.9×10−5	0.23
rs4808801	19	18571141	A/G	SSBP4:ISYNA1:ELL	0.65	1.08(1.05–1.10)	4.6×10−15	0.33	1.01(0.96–1.07)	0.66	1.00 (0.93–1.07)	0.94	0.99 (0.91–1.08)	0.82	0.17
rs3760982	19	44286513	A/G	C19orf61:KCNN4: LYPD5:ZNF283	0.46	1.06(1.04–1.08)	2.1×10−10	0.47	1.04(0.99–1.09)	0.15	1.05 (0.98–1.12)	0.18	0.97 (0.90–1.05)	0.49	0.47
rs2284378	20	32588095	T/C	RALY	0.31	1.08(1.05–1.12)	1.3×10−6	0.16	1.00(0.94–1.08)	0.89	0.97 (0.89–1.06)	0.48	1.06 (0.95–1.17)	0.31	0.42
rs2823093	21	16520832	G/A	NRIP1	0.74	1.09(1.06–1.11)	6.8×10−16	0.57	1.01(0.97–1.07)	0.56	1.00 (0.94–1.07)	0.90	0.98 (0.90–1.06)	0.57	0.47
rs132390	22	29621477	G/A	EMID1:RHBDD3: EWSR1	0.036	1.12(1.07–1.18)	3.1×10−9	0.05	0.89(0.80–1.00)	0.042	0.87 (0.75–1.01)	0.067	0.90 (0.76–1.07)	0.25	0.85
rs6001930	22	40876234	G/A	MKL1	0.11	1.12(1.09–1.16)	8.8×10−19	0.13	1.05(0.97–1.13)	0.21	1.09 (0.99–1.20)	0.091	1.07 (0.95–1.19)	0.27	0.24

^aSNP positions are based on GRCh37.

^bRisk/Reference Allele. Risk Allele is the allele associated with increased breast cancer risk in previous GWAS.

^cRAF, Risk Allele Frequency in controls of previous GWAS studies or in controls of AABC.

^dHeterogeneity between AABC, ROOT and AMBER.

^eOR reported for ER− breast cancer.

^fOR reported in African Americans.

^gOR reported in Asians.