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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Breast Cancer Res Treat. 2013 Sep 24;141(3):447–459. doi: 10.1007/s10549-013-2698-4

Table 5.

Polygenic risk score and breast cancer risk in African American and European American women

Subgroup SNPs (risk genotype or allele) Expected range
of polygenic
risk score		 Mean (SD) of
polygenic score
in cases		 Mean (SD) of
polygenic score
in controls		 OR (95% CI) per
unit of composite
genetic score		 P
Overall risk in AAs rs7354931(CC), rs12586258(GG),
rs2018562(G allele)		 0–4.0 3.0 (0.8) 2.8 (0.8) 1.44 (1.21–1.71) 3.3*10−5
Overall risk in EAs rs2059691(AA), rs1527423(AG/GG),
rs1834306(GG/GA), rs11107973(GG),
rs1951032(GA/AA),
rs5750504(TA/AA)		 0–6.0 3.7 (1.2) 3.3 (1.2) 1.37 (1.18–1.59) 3.2*10−5
ER+ in AAs rs16822342(AA), rs3820276(GC/CC),
rs11077(AA), rs12266981(GA/AA),
rs8041044(CC), rs17669(AA/AG),
rs2018562(GG)		 0–7.0 3.0 (1.2) 2.5 (1.1) 1.51 (1.30–1.74) 3.3*10−8
ER+ in EAs rs878175(AA), rs1527423(AG/GG),
rs2060133(CC), rs1834306(GG/GA),
rs11107973(GG), rs1951032(GA/AA),
rs9606241(GG), rs5750504(A allele)		 0–9.0 4.6 (1.3) 3.9 (1.2) 1.73 (1.45–2.06) 1.4*10−9
ER− in AAs rs107822(GA/AA), rs4909238(GG),
rs7861254(GG), rs2018562(AG/GG)		 0–4.0 2.1 (0.8) 1.7 (0.9) 1.73 (1.35–2.22) 1.4*10−5
ER− in EAs rs4919510(CC), rs7141987(AG/GG),
rs2281611(CA/AA)		 0–3.0 2.4 (0.9) 1.9 (1.0) 1.73 (1.22–2.45) 2.0*10−3
Triple negative in AAs rs107822 (GA/AA), rs4909238(GG),
rs7861254(GG), rs2185743(AA),
3008372(GA/AA), rs543412(GG),
rs2217653(AG/GG)		 0–7.0 3.5 (1.3) 2.7 (1.4) 1.49 (1.21–1.83) 2.0*10−4
Triple negative in EAs rs11100610(AA), rs5905010(GC/CC) 0–2.0 1.1 (0.6) 0.6 (0.7) 2.86 (1.47–5.55) 2.0*10−3

Footnote: Odds ratios and p-values adjusted for age, body mass index (BMI), proportion of European ancestry, family history of breast cancer, and education. Weighted composite genetic score is calculated as the sum of the number of risk allele or genotype weighted by their effect sizes of top ranked SNPs in each subgroup, which is then standardized to make 1 unit of the score equal to 1 risk allele or genotype, depending on the genetic model used for each SNP.

Abbreviations: SD: standard deviation; OR: odds ratio; CI: confidence interval