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Table 3 Association of polygenic risk score (PRS) with breast cancer risk and evaluation of confounding due to family history and density measures (adjusted PD and adjusted DA). All eight studies combined and subset to cohort/population-based studies. All models adjusted for age, 1/BMI, and study

From: Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk

Model N case/N control PRS
OR (95% CI)
+Family history
OR (95% CI)
+adjusted PD
OR (95% CI)
+adjusted DA
OR (95% CI)
Overall sample
 Overall PRS (per 1 SD) 3628/5126 1.52 (1.45, 1.59) 1.52 (1.44, 1.59) 1.50 (1.42, 1.57) 1.50 (1.43, 1.58)
PRS quintile
 1 349/1033 0.51 (0.44, 0.60) 0.51 (0.44, 0.61) 0.53 (0.45, 0.63) 0.53 (0.45, 0.63)
 2 535/1008 0.80 (0.69, 0.93) 0.78 (0.67, 0.92) 0.80 (0.69, 0.94) 0.80 (0.69, 0.94)
 3 (Ref) 687/1024 1.00 (Ref) 1.00 (Ref) 1.00 (Ref) 1.00 (Ref)
 4 887/1032 1.31 (1.14, 1.50) 1.31 (1.14, 1.51) 1.32 (1.14, 1.53) 1.33 (1.15, 1.53)
 5 1170/1029 1.66 (1.45, 1.90) 1.65 (1.44, 1.90) 1.64 (1.43, 1.89) 1.65 (1.44, 1.91)
Cohort/population-based studies only
 Overall PRS (per 1 SD) 2439/3895 1.56 (1.48, 1.66) 1.55 (1.47, 1.65) 1.54 (1.45, 1.63) 1.55 (1.46, 1.64)
PRS quintile
 1 232/786 0.51 (0.42, 0.62) 0.51 (0.42, 0.62) 0.53 (0.43, 0.65) 0.53 (0.43, 0.64)
 2 361/776 0.80 (0.66, 0.95) 0.79 (0.66, 0.94) 0.80 (0.67, 0.96) 0.80 (0.67, 0.96)
 3 (Ref) 464/789 1.00 (Ref) 1.00 (Ref) 1.00 (Ref) 1.00 (Ref)
 4 589/793 1.30 (1.10, 1.53) 1.28 (1.08, 1.52) 1.29 (1.09, 1.54) 1.30 (1.10, 1.54)
 5 793/751 1.79 (1.52, 2.11) 1.76 (1.50, 2.08) 1.76 (1.49, 2.08) 1.77 (1.50, 2.09)
  1. Heterogeneity of PRS association by study: P = 0.84 for population based studies
  2. PRS quintiles: quintile 1, − 1.411 to − 0.014; quintile 2, − 0.015 to 0.280; quintile 3, 0.281 to 0.542; quintile 4, 0.543 to 0.885; quintile 5, 0.886 to 2.583
  3. SD standard deviation, CI confidence interval, Ref reference group, Adj adjusted