Table 1. Associations between TGF-β Pathway SNPs and ovarian cancer risk.
Gene | SNP | Genotype (case/control) | OR (95% CI)* | Model** | P | BootstrapP<.05 | |||
WW (n/n) | WV (n/n) | VV (n/n) | MAF | ||||||
BMP2 | rs235757 | 174/157 | 198/192 | 45/68 | 0.35/0.39 | 0.64 (0.42–0.95) | REC | 0.029 | 96 |
INHA | rs7588807 | 107/82 | 216/241 | 94/94 | 0.48/0.51 | 0.70 (0.50–0.98) | DOM | 0.035 | 64 |
INHBC | rs2228225 | 131/171 | 203/174 | 83/72 | 0.44/0.38 | 1.48 (1.11–1.99) | DOM | 0.008 | 100 |
rs4760259 | 165/199 | 199/171 | 53/47 | 0.37/0.32 | 1.39 (1.06–1.84) | DOM | 0.019 | 95 | |
SMAD1 | rs11724777 | 160/155 | 200/177 | 57/85 | 0.38/0.42 | 0.63 (0.43–0.91) | REC | 0.014 | 100 |
rs6537355 | 340/319 | 69/93 | 8/4 | 0.10/0.12 | 0.69 (0.49–0.98) | DOM | 0.036 | 11 | |
SMAD2 | rs1792689 | 328/301 | 87/105 | 2/11 | 0.11/0.15 | 0.69 (0.50–0.95) | DOM | 0.024 | 85 |
rs1792658 | 256/228 | 138/166 | 19/19 | 0.21/0.25 | 0.75 (0.56–0.99) | DOM | 0.043 | 55 | |
SMAD3 | rs10152307 | 243/206 | 140/179 | 34/32 | 0.25/0.29 | 0.72 (0.54–0.95) | DOM | 0.019 | 100 |
rs4776892 | 269/244 | 123/155 | 25/18 | 0.21/0.23 | 0.73 (0.55–0.98) | DOM | 0.035 | 28 | |
rs7183244 | 192/160 | 167/186 | 58/71 | 0.34/0.39 | 0.74 (0.56–0.98) | DOM | 0.035 | 88 | |
SMAD6 | rs4147407 | 313/343 | 100/69 | 4/5 | 0.13/0.09 | 1.60 (1.14–2.24) | DOM | 0.007 | 100 |
rs4075546 | 185/152 | 185/199 | 47/66 | 0.33/0.40 | 0.77 (0.63–0.94) | ADD | 9.9×10−3 | 100 | |
rs16953584 | 258/235 | 144/150 | 15/31 | 0.21/0.25 | 0.45 (0.24–0.87) | REC | 0.016 | 95 | |
rs2053424 | 139/166 | 212/182 | 66/68 | 0.41/0.38 | 1.43 (1.07–1.92) | DOM | 0.017 | 51 | |
rs5014202 | 278/251 | 125/145 | 14/21 | 0.18/0.22 | 0.78 (0.61–0.99) | ADD | 0.040 | 67 | |
rs4776318 | 140/116 | 198/201 | 79/100 | 0.43/0.48 | 0.82 (0.68–1.00) | ADD | 0.047 | 83 | |
SMAD7 | rs17186485 | 370/346 | 47/67 | 0/4 | 0.06/0.09 | 0.63 (0.42–0.93) | DOM | 0.021 | 94 |
rs3736242 | 229/259 | 168/137 | 18/21 | 0.25/0.21 | 1.37 (1.03–1.81) | DOM | 0.029 | 51 | |
rs7238442 | 124/120 | 206/193 | 84/104 | 0.45/0.48 | 0.70 (0.50–0.99) | REC | 0.041 | 2 | |
SMAD9 | rs648206 | 118/127 | 195/210 | 104/80 | 0.48/0.44 | 1.45 (1.04–2.02) | REC | 0.029 | 61 |
rs576434 | 141/115 | 191/213 | 85/89 | 0.43/0.47 | 0.74 (0.55–0.99) | DOM | 0.046 | 61 | |
TGFB1 | rs8179181 | 269/236 | 119/158 | 24/21 | 0.20/0.24 | 0.72 (0.54–0.96) | DOM | 0.025 | 100 |
Note: Significant SNPs after internal validation by bootstrapping analysis (significant in ≥80 runs among 100 runs) are in boldface. WW, homozygous wild-type genotype; WV, heterozygous variant genotype; VV, homozygous variant genotype.
Abbreviations: DOM, dominant model (WW vs. [WV and VV]); REC, recessive model ([WW and WV] vs. VV); ADD, additive model (P for trend with increasing number of variant [V] alleles); MAF, minor allele frequency.
*Adjusted by age and ethnicity by unconditional logistic regression.
**The model with the most significant P value was defined as the best model for each SNP.