Table 3.

Associations with breast cancer risk for selected TGF-β signaling pathway variants, the SBCGS

Breast cancer risk, additive modelbDominant modelcRecessive modeld
InformationaN (cases/controls)AB OR (95% CI)BB OR (95% CI)PAB/BB OR (95% CI)PBB OR (95% CI)P
TGFBR2 rs1078985 (A/G), 15.9%, intron 3
 SBCGS I2,909/2,3160.87 (0.76–0.98)0.79 (0.55–1.12)0.01170.86 (0.76–0.97)0.01320.82 (0.57–1.17)0.2656
 SBCGS II1,543/1,7460.81 (0.69–0.95)0.64 (0.39–1.04)0.00240.79 (0.68–0.93)0.00380.67 (0.42–1.09)0.1064
 Combined4,452/4,0620.84 (0.76–0.93)0.73 (0.55–0.97)1.15 × 10−40.84 (0.76–0.92)1.88 × 10−40.77 (0.58–1.02)0.0605
TGFB2 rs2799086 (C/T), 25.0%, intron 2
 SBCGS I2,764/2,1771.04 (0.92–1.17)1.34 (1.05–1.71)0.05891.07 (0.96–1.20)0.22471.32 (1.04–1.68)0.0228
 SBCGS II1,613/1,8001.06 (0.92–1.23)1.18 (0.90–1.55)0.18211.08 (0.94–1.24)0.25831.16 (0.89–1.51)0.2883
 Combined4,377/3,9771.05 (0.96–1.15)1.27 (1.06–1.52)0.01911.08 (0.99–1.18)0.09071.25 (1.04–1.49)0.0147
TGFB2 rs17047740 (C/T), 9.9%, intron 2
 SBCGS I2,771/2,1761.04 (0.90–1.20)2.22 (1.19–4.12)0.10881.08 (0.94–1.24)0.27722.20 (1.18–4.08)0.0126
 SBCGS II1,601/1,7841.12 (0.94–1.34)1.08 (0.54–2.14)0.21071.12 (0.95–1.33)0.18921.05 (0.53–2.09)0.8801
 Combined4,372/3,9601.08 (0.97–1.20)1.58 (1.01–2.47)0.04181.10 (0.99–1.23)0.08831.56 (1.00–2.44)0.0511
TGFBR1 rs2026811 (C/A), 46.9%, intron 1
 SBCGS I1,616/1,5850.82 (0.70–0.96)0.88 (0.72–1.07)0.13400.84 (0.72–0.97)0.02211.00 (0.84–1.18)0.9834
 SBCGS II908/8880.89 (0.71–1.10)0.91 (0.70–1.18)0.42780.89 (0.73–1.10)0.28300.98 (0.78–1.23)0.8552
 Combined2,524/2,4730.84 (0.74–0.96)0.89 (0.76–1.04)0.09560.86 (0.76–0.97)0.01250.99 (0.87–1.14)0.9274
TGFBR1 rs10733710 (G/A), 18.7%, intron 6
 SBCGS I947/8891.28 (1.05–1.55)1.42 (0.69–2.93)0.01111.28 (1.06–1.55)0.01081.31 (0.64–2.68)0.4682
 SBCGS II1,609/1,7991.10 (0.95–1.27)1.04 (0.74–1.47)0.29521.09 (0.95–1.25)0.22621.01 (0.72–1.42)0.9466
 Combined2,556/2,6881.16 (1.03–1.30)1.11 (0.82–1.52)0.02261.15 (1.03–1.29)0.01321.06 (0.78–1.44)0.7092
TGFBR2 rs304822 (C/T), 38.9%, 3′ flanking region
 SBCGS I2,853/2,2550.84 (0.74–0.95)0.92 (0.78–1.10)0.07910.86 (0.76–0.96)0.00841.02 (0.87–1.20)0.8101
 SBCGS II1,598/1,7800.91 (0.78–1.05)0.88 (0.72–1.08)0.15890.90 (0.78–1.03)0.13820.93 (0.77–1.13)0.4687
 Combined4,451/4,0350.87 (0.79–0.95)0.91 (0.80–1.04)0.02720.88 (0.80–0.96)0.00340.98 (0.87–1.11)0.7868
TGFBR3 rs284185 (T/A), 11.0%, intron 4
 SBCGS I2,763/2,1671.00 (0.87–1.15)1.71 (1.04–2.83)0.31031.04 (0.90–1.19)0.61761.71 (1.04–2.83)0.0352
 SBCGS II1,609/1,7910.86 (0.72–1.02)1.72 (0.96–3.07)0.56210.90 (0.76–1.07)0.22071.77 (0.99–3.16)0.0532
 Combined4,372/3,9580.94 (0.84–1.05)1.72 (1.17–2.51)0.66820.98 (0.88–1.09)0.70601.74 (1.19–2.54)0.0042
SMAD3 rs7178117 (G/C), 10.0%, intron 1
 SBCGS I2,771/2,1771.14 (0.99–1.32)1.57 (0.94–2.64)0.01901.17 (1.01–1.34)0.03401.53 (0.91–2.58)0.1055
 SBCGS II1,600/1,7811.11 (0.93–1.32)0.82 (0.43–1.58)0.45991.09 (0.92–1.29)0.32930.81 (0.42–1.55)0.5203
 Combined4,371/3,9581.13 (1.01–1.27)1.22 (0.82–1.82)0.01851.14 (1.02–1.27)0.01951.19 (0.81–1.77)0.3761

NOTE: Estimates and P values in bold denote significance at P ≤ 0.05.

  • aInformation includes alleles (major or reference allele/minor allele) as determined by allele frequency among all genotyped controls, MAF among all genotyped controls, and region of the gene where the SNP is located.

  • bBreast cancer risk for heterozygotes (AB) and minor allele homozygotes (BB), compared with major allele homozygotes (AA), in models adjusted for age and genotyping stage when appropriate; Ptrend.

  • cBreast cancer risk for minor allele carriers (AB/BB) compared with major allele homozygotes (AA), in models adjusted for age and genotyping stage when appropriate; P value for dominant association.

  • dBreast cancer risk for minor allele homozygotes (BB) compared with major allele carriers (AA/AB), in models adjusted for age and genotyping stage when appropriate; P value for recessive association.