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Supplementary Table 1. Association between polymorphisms in hormone metabolizing genes and testicular germ cell tumors in the STEED studya for whites only
Controlsb / TGCTbGene / SNP / N / % / N / % / OR / 95% CI
CYP17A1 / Ex1+27T>C / TT / 233 / 38.7% / 198 / 39.1% / 1.00
rs743572 / TC / 294 / 48.8% / 227 / 44.8% / 0.91 / 0.70 / - / 1.18
CC / 75 / 12.5% / 82 / 16.2% / 1.27 / 0.88 / - / 1.83
p for trend= / 0.45
Ex1-160C>T / CC / 221 / 36.8% / 181 / 35.8% / 1.00
rs6162 / CT / 296 / 49.3% / 236 / 46.7% / 0.97 / 0.75 / - / 1.26
TT / 84 / 14.0% / 88 / 17.4% / 1.25 / 0.87 / - / 1.79
p for trend= / 0.35
Ex1-103G>T / GG / 238 / 39.6% / 198 / 39.0% / 1.00
rs6163 / GT / 287 / 47.8% / 227 / 44.7% / 0.95 / 0.74 / - / 1.23
TT / 76 / 12.6% / 83 / 16.3% / 1.29 / 0.90 / - / 1.86
p for trend= / 0.34
CYP1A1 / -17961T>C / TT / 324 / 53.9% / 256 / 51.5% / 1.00
rs2472299 / TC / 233 / 38.8% / 205 / 41.2% / 1.11 / 0.87 / - / 1.43
CC / 44 / 7.3% / 36 / 7.2% / 1.03 / 0.64 / - / 1.65
p for trend= / 0.55
-16488T>C / TT / 579 / 95.4% / 479 / 95.2% / 1.00
rs11632547 / TC / 28 / 4.6% / 24 / 4.8% / 1.04 / 0.60 / - / 1.82
CC / 0 / 0.0% / 0 / 0.0% / - / - / - / -
-10549G>A / GG / 414 / 68.7% / 362 / 71.7% / 1.00
rs4886605 / GA / 168 / 27.9% / 136 / 26.9% / 0.92 / 0.70 / - / 1.20
AA / 21 / 3.5% / 7 / 1.4% / 0.38 / 0.16 / - / 0.90
p for trend= / 0.09
-10375G>A / GG / 495 / 82.4% / 421 / 83.5% / 1.00
rs12441817 / GA / 99 / 16.5% / 81 / 16.1% / 0.95 / 0.69 / - / 1.31
AA / 7 / 1.2% / 2 / 0.4% / 0.32 / 0.07 / - / 1.57
p for trend= / 0.39
-9893G>A / GG / 551 / 91.4% / 459 / 91.6% / 1.00
rs17861115 / GA / 50 / 8.3% / 41 / 8.2% / 0.98 / 0.64 / - / 1.51
AA / 2 / 0.3% / 1 / 0.2% / 0.58 / 0.05 / - / 6.53
p for trend= / 0.81
-4404G>A / GG / 407 / 68.1% / 358 / 71.0% / 1.00
rs7495708 / GA / 171 / 28.6% / 139 / 27.6% / 0.91 / 0.70 / - / 1.19
AA / 20 / 3.3% / 7 / 1.4% / 0.40 / 0.17 / - / 0.95
p for trend= / 0.10
-4010A>G / AA / 264 / 43.9% / 224 / 44.4% / 1.00
rs2470893 / AG / 282 / 46.8% / 225 / 44.6% / 0.95 / 0.74 / - / 1.22
GG / 56 / 9.3% / 56 / 11.1% / 1.17 / 0.77 / - / 1.76
p for trend= / 0.73
IVS1+606G>T / GG / 260 / 43.1% / 251 / 49.6% / 1.00
rs2606345 / GT / 281 / 46.6% / 205 / 40.5% / 0.75 / 0.58 / - / 0.96
TT / 62 / 10.3% / 50 / 9.9% / 0.83 / 0.55 / - / 1.26
p for trend= / 0.08
CYP1A1 / IVS1-728C>T / CC / 475 / 78.9% / 402 / 79.9% / 1.00
rs4646421 / CT / 117 / 19.4% / 99 / 19.7% / 0.99 / 0.74 / - / 1.34
TT / 10 / 1.7% / 2 / 0.4% / 0.23 / 0.05 / - / 1.06
p for trend= / 0.36
Ex7+131A>G (I462V ) / AA / 545 / 91.4% / 460 / 91.6% / 1.00
rs1048943 / AG / 49 / 8.2% / 41 / 8.2% / 0.98 / 0.64 / - / 1.52
GG / 2 / 0.3% / 1 / 0.2% / 0.58 / 0.05 / - / 6.46
p for trend= / 0.82
1188bp 3' of STP C>T / CC / 476 / 78.9% / 409 / 80.5% / 1.00
rs4646903 / CT / 116 / 19.2% / 96 / 18.9% / 0.95 / 0.71 / - / 1.29
TT / 11 / 1.8% / 3 / 0.6% / 0.31 / 0.09 / - / 1.12
p for trend= / 0.26
9778bp 3' of STP A>G / AA / 415 / 69.3% / 363 / 72.0% / 1.00
rs1456432 / AG / 163 / 27.2% / 134 / 26.6% / 0.93 / 0.71 / - / 1.21
GG / 21 / 3.5% / 7 / 1.4% / 0.38 / 0.16 / - / 0.90
p for trend= / 0.10
11599bp 3' of STP C>G / CC / 419 / 69.3% / 365 / 72.1% / 1.00
rs2198843 / CG / 165 / 27.3% / 134 / 26.5% / 0.92 / 0.70 / - / 1.20
GG / 21 / 3.5% / 7 / 1.4% / 0.38 / 0.16 / - / 0.91
p for trend= / 0.10
HSD17B1 / Ex1-486G>A / GG / 200 / 33.3% / 182 / 36.4% / 1.00
rs2830 / GA / 244 / 40.6% / 213 / 42.6% / 0.94 / 0.72 / - / 1.24
AA / 157 / 26.1% / 105 / 21.0% / 0.73 / 0.53 / - / 1.01
p for trend= / 0.07
IVS4-150C>A / CC / 335 / 55.4% / 268 / 53.1% / 1.00
rs676387 / CA / 221 / 36.5% / 193 / 38.2% / 1.09 / 0.84 / - / 1.40
AA / 49 / 8.1% / 44 / 8.7% / 1.14 / 0.74 / - / 1.77
p for trend= / 0.44
HSD17B4 / -27855G>T / GG / 166 / 30.4% / 119 / 25.6% / 1.00
rs2451818 / GT / 257 / 47.1% / 244 / 52.5% / 1.33 / 0.99 / - / 1.78
TT / 123 / 22.5% / 102 / 21.9% / 1.16 / 0.82 / - / 1.65
p for trend= / 0.33
-18796A>T / AA / 437 / 72.7% / 359 / 71.9% / 1.00
rs384346 / AT / 153 / 25.5% / 136 / 27.3% / 1.08 / 0.82 / - / 1.42
TT / 11 / 1.8% / 4 / 0.8% / 0.44 / 0.14 / - / 1.40
p for trend= / 0.92
-2124A>T / AA / 441 / 76.0% / 370 / 76.3% / 1.00
rs28943585 / AT / 130 / 22.4% / 109 / 22.5% / 1.00 / 0.75 / - / 1.34
TT / 9 / 1.6% / 6 / 1.2% / 0.79 / 0.28 / - / 2.24
p for trend= / 0.84
-601A>C / AA / 456 / 75.5% / 379 / 75.0% / 1.00
rs28943586 / AC / 140 / 23.2% / 120 / 23.8% / 1.03 / 0.78 / - / 1.36
CC / 8 / 1.3% / 6 / 1.2% / 0.90 / 0.31 / - / 2.62
p for trend= / 0.92
IVS1-178G>A / GG / 166 / 27.5% / 126 / 25.0% / 1.00
rs32651 / GA / 302 / 50.1% / 262 / 51.9% / 1.14 / 0.86 / - / 1.51
AA / 135 / 22.4% / 117 / 23.2% / 1.14 / 0.81 / - / 1.60
p for trend= / 0.44
Ex6+15G>A (R106H) / GG / 179 / 29.6% / 139 / 27.5% / 1.00
rs25640 / GA / 295 / 48.8% / 262 / 51.8% / 1.14 / 0.86 / - / 1.50
AA / 130 / 21.5% / 105 / 20.8% / 1.04 / 0.74 / - / 1.46
p for trend= / 0.76
HSD17B4 / IVS8+4959C>G / CC / 187 / 30.9% / 150 / 29.7% / 1.00
rs2455463 / CG / 294 / 48.6% / 260 / 51.5% / 1.11 / 0.84 / - / 1.45
GG / 124 / 20.5% / 95 / 18.8% / 0.96 / 0.68 / - / 1.36
p for trend= / 0.94
IVS11-1203G>A / GG / 196 / 32.4% / 155 / 30.8% / 1.00
rs426899 / GA / 284 / 46.9% / 252 / 50.0% / 1.12 / 0.85 / - / 1.47
AA / 125 / 20.7% / 97 / 19.2% / 0.99 / 0.70 / - / 1.38
p for trend= / 0.94
IVS22+74G>C / GG / 255 / 42.9% / 199 / 40.4% / 1.00
rs17145464 / GC / 273 / 46.0% / 231 / 47.0% / 1.08 / 0.84 / - / 1.40
CC / 66 / 11.1% / 62 / 12.6% / 1.20 / 0.81 / - / 1.78
p for trend= / 0.34
IVS23-34C>T / CC / 464 / 76.6% / 387 / 76.5% / 1.00
rs28943593 / CT / 132 / 21.8% / 113 / 22.3% / 1.02 / 0.77 / - / 1.36
TT / 10 / 1.7% / 6 / 1.2% / 0.71 / 0.26 / - / 1.98
p for trend= / 0.87
Ex24-86->A / AA / 169 / 32.5% / 132 / 29.7% / 1.00
rs34381335 / A- / 239 / 46.0% / 220 / 49.5% / 1.18 / 0.88 / - / 1.58
-- / 112 / 21.5% / 92 / 20.7% / 1.05 / 0.74 / - / 1.51
p for trend= / 0.66
13225bp 3' of STP A>G / AA / 193 / 31.9% / 160 / 31.6% / 1.00
rs246965 / AG / 284 / 46.9% / 249 / 49.2% / 1.06 / 0.81 / - / 1.39
GG / 128 / 21.2% / 97 / 19.2% / 0.92 / 0.66 / - / 1.29
p for trend= / 0.71
AR / Ex1-978G>A / 497 / 83.1% / 406 / 81.9% / 1.00
rs6152 / 101 / 16.9% / 90 / 18.1% / 1.09 / 0.80 / - / 1.49
IVS1-458G>A / 503 / 83.3% / 411 / 81.7% / 1.00
rs1204038 / 101 / 16.7% / 92 / 18.3% / 1.11 / 0.82 / - / 1.52
IVS3+15670G>A / 565 / 93.4% / 461 / 91.1% / 1.00
rs1337080 / 40 / 6.6% / 45 / 8.9% / 1.36 / 0.87 / - / 2.12
aAnalyses adjusted for serum collection date, and birth year.
bDifferences between cell counts and total number of cases and controls are due to missing genotype data.
Highly correlated SNPs
(1) CYP17A1 rs743572, rs6162 and rs6163; r2>0.90
(2) CYP1A1 rs7495708, rs1456432, rs2198843, and rs4886605; r2>0.90
(3 )HSD17B4 rs28943585 and rs28943593 and rs28943586 r2>0.87;
(4 )HSD17B4 rs34381335 and rs246965 r2>0.90
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Supplementary Table 2. Association between polymorphisms in hormone metabolizing genes and risk of testicular germ cell tumors for whites only, stratified by histologya
Controls / Seminoma / Non seminomaGene / SNP / Genotype / N / % / N / % / OR / 95% CI / N / % / OR / 95% CI
CYP17A1 / Ex1+27T>C / TT / 233 / 38.7% / 82 / 38.9% / 1.00 / 116 / 39.2% / 1.00
rs743572 / TC / 294 / 48.8% / 100 / 47.4% / 0.97 / 0.69 / - / 1.36 / 127 / 42.9% / 0.90 / 0.66 / - / 1.23
CC / 75 / 12.5% / 29 / 13.7% / 1.18 / 0.71 / - / 1.95 / 53 / 17.9% / 1.37 / 0.90 / - / 2.10
p for trend = / 0.68 / p for trend = / 0.34
Ex1-160C>T / CC / 221 / 36.8% / 76 / 36.5% / 1.00 / 105 / 35.4% / 1.00
rs6162 / CT / 296 / 49.3% / 103 / 49.5% / 1.03 / 0.73 / - / 1.46 / 133 / 44.8% / 0.97 / 0.70 / - / 1.32
TT / 84 / 14.0% / 29 / 13.9% / 1.08 / 0.65 / - / 1.79 / 59 / 19.9% / 1.40 / 0.93 / - / 2.12
p for trend = / 0.76 / p for trend = / 0.20
Ex1-103G>T / GG / 238 / 39.6% / 82 / 38.9% / 1.00 / 116 / 39.1% / 1.00
rs6163 / GT / 287 / 47.8% / 100 / 47.4% / 1.02 / 0.73 / - / 1.44 / 127 / 42.8% / 0.93 / 0.68 / - / 1.27
TT / 76 / 12.6% / 29 / 13.7% / 1.19 / 0.72 / - / 1.97 / 54 / 18.2% / 1.40 / 0.92 / - / 2.13
p for trend = / 0.57 / p for trend = / 0.26
CYP1A1 / -17961T>C / CC / 324 / 53.9% / 115 / 55.6% / 1.00 / 141 / 48.6% / 1.00
rs2472299 / CT / 233 / 38.8% / 77 / 37.2% / 0.89 / 0.63 / - / 1.25 / 128 / 44.1% / 1.27 / 0.94 / - / 1.71
TT / 44 / 7.3% / 15 / 7.2% / 0.97 / 0.52 / - / 1.83 / 21 / 7.2% / 1.05 / 0.59 / - / 1.84
p for trend = / 0.63 / p for trend = / 0.30
-16488T>C / CC / 579 / 95.4% / 200 / 96.6% / 1.00 / 279 / 94.3% / 1.00
rs11632547 / CT / 28 / 4.6% / 7 / 3.4% / 0.75 / 0.32 / - / 1.76 / 17 / 5.7% / 1.25 / 0.67 / - / 2.35
TT / 0 / 0.0% / 0 / 0.0% / 1.06 / 1.03 / - / 1.09 / 0 / 0.0% / - / -----
p for trend = / 0.51
-10549G>A / GG / 414 / 68.7% / 142 / 67.6% / 1.00 / 220 / 74.6% / 1.00
rs4886605 / GA / 168 / 27.9% / 65 / 31.0% / 1.16 / 0.82 / - / 1.65 / 71 / 24.1% / 0.75 / 0.54 / - / 1.04
AA / 21 / 3.5% / 3 / 1.4% / 0.41 / 0.12 / - / 1.40 / 4 / 1.4% / 0.37 / 0.12 / - / 1.11
p for trend = / 0.89 / p for trend = / 0.02
-10375G>A / AA / 495 / 82.4% / 176 / 83.4% / 1.00 / 245 / 83.6% / 1.00
rs12441817 / AG / 99 / 16.5% / 35 / 16.6% / 1.06 / 0.69 / - / 1.62 / 46 / 15.7% / 0.87 / 0.59 / - / 1.29
GG / 7 / 1.2% / 0 / 0.0% / - / ----- / 2 / 0.7% / 0.53 / 0.11 / - / 2.65
p for trend = / 0.66 / p for trend = / 0.34
-9893G>A / GG / 551 / 91.4% / 191 / 91.0% / 1.00 / 268 / 92.1% / 1.00
rs17861115 / GA / 50 / 8.3% / 19 / 9.0% / 1.18 / 0.67 / - / 2.07 / 22 / 7.6% / 0.83 / 0.49 / - / 1.42
AA / 2 / 0.3% / 0 / 0.0% / - / ----- / 1 / 0.3% / - / -----
-4404G>A / AA / 407 / 68.1% / 139 / 66.5% / 1.00 / 219 / 74.2% / 1.00
rs7495708 / AG / 171 / 28.6% / 67 / 32.1% / 1.19 / 0.84 / - / 1.69 / 72 / 24.4% / 0.72 / 0.52 / - / 1.00
GG / 20 / 3.3% / 3 / 1.4% / 0.42 / 0.12 / - / 1.47 / 4 / 1.4% / 0.38 / 0.13 / - / 1.15
p for trend = / 0.96 / p for trend = / 0.01
-4010A>G / GG / 264 / 43.9% / 96 / 45.7% / 1.00 / 128 / 43.4% / 1.00
rs2470893 / GA / 282 / 46.8% / 92 / 43.8% / 0.87 / 0.62 / - / 1.22 / 133 / 45.1% / 1.03 / 0.76 / - / 1.39
AA / 56 / 9.3% / 22 / 10.5% / 1.11 / 0.64 / - / 1.93 / 34 / 11.5% / 1.22 / 0.75 / - / 1.98
p for trend = / 0.88 / p for trend = / 0.51
IVS1+606G>T / TT / 260 / 43.1% / 99 / 47.1% / 1.00 / 152 / 51.4% / 1.00
rs2606345 / TG / 281 / 46.6% / 87 / 41.4% / 0.84 / 0.60 / - / 1.18 / 118 / 39.9% / 0.69 / 0.51 / - / 0.93
GG / 62 / 10.3% / 24 / 11.4% / 1.03 / 0.61 / - / 1.75 / 26 / 8.8% / 0.70 / 0.42 / - / 1.17
p for trend = / 0.68 / p for trend = / 0.02
IVS1-728C>T / CC / 475 / 78.9% / 165 / 78.6% / 1.00 / 237 / 80.9% / 1.00
rs4646421 / CT / 117 / 19.4% / 45 / 21.4% / 1.14 / 0.77 / - / 1.69 / 54 / 18.4% / 0.87 / 0.60 / - / 1.25
TT / 10 / 1.7% / 0 / 0.0% / - / ----- / 2 / 0.7% / 0.38 / 0.08 / - / 1.80
p for trend = / 0.79 / p for trend = / 0.22
Ex7+131A>G (I462V ) / AA / 545 / 91.4% / 190 / 91.3% / 1.00 / 270 / 91.8% / 1.00
rs1048943 / AG / 49 / 8.2% / 18 / 8.7% / 1.12 / 0.63 / - / 1.98 / 23 / 7.8% / 0.88 / 0.52 / - / 1.48
GG / 2 / 0.3% / 0 / 0.0% / - / ----- / 1 / 0.3% / 1.05 / 0.09 / 12.44
p for trend = / 0.66
1188bp 3' of STP C>T / TT / 476 / 78.9% / 166 / 78.7% / 1.00 / 243 / 81.8% / 1.00
rs4646903 / TC / 116 / 19.2% / 45 / 21.3% / 1.16 / 0.78 / - / 1.72 / 51 / 17.2% / 0.80 / 0.55 / - / 1.16
CC / 11 / 1.8% / 0 / 0.0% / - / ----- / 3 / 1.0% / 0.51 / 0.14 / - / 1.87
p for trend = / 0.13
9778bp 3' of STP A>G / AA / 415 / 69.3% / 141 / 67.5% / 1.00 / 222 / 75.3% / 1.00
rs1456432 / AG / 163 / 27.2% / 65 / 31.1% / 1.22 / 0.86 / - / 1.73 / 69 / 23.4% / 0.73 / 0.53 / - / 1.02
GG / 21 / 3.5% / 3 / 1.4% / 0.41 / 0.12 / - / 1.42 / 4 / 1.4% / 0.37 / 0.12 / - / 1.09
p for trend = / 0.94 / p for trend = / 0.01
11599bp 3' of STP C>G / GG / 419 / 69.3% / 142 / 67.6% / 1.00 / 223 / 75.3% / 1.00
rs2198843 / GC / 165 / 27.3% / 65 / 31.0% / 1.20 / 0.85 / - / 1.71 / 69 / 23.3% / 0.73 / 0.52 / - / 1.02
CC / 21 / 3.5% / 3 / 1.4% / 0.41 / 0.12 / - / 1.42 / 4 / 1.4% / 0.37 / 0.12 / - / 1.10
p for trend = / 0.98 / p for trend = / 0.01
HSD17B1 / Ex1-486G>A / GG / 200 / 33.3% / 77 / 36.8% / 1.00 / 105 / 36.1% / 1.00
rs2830 / GA / 244 / 40.6% / 83 / 39.7% / 0.91 / 0.63 / - / 1.32 / 130 / 44.7% / 0.97 / 0.70 / - / 1.35
AA / 157 / 26.1% / 49 / 23.4% / 0.84 / 0.55 / - / 1.27 / 56 / 19.2% / 0.66 / 0.45 / - / 0.98
p for trend = / 0.40 / p for trend = / 0.06
IVS4-150C>A / CC / 335 / 55.4% / 110 / 52.6% / 1.00 / 158 / 53.4% / 1.00
rs676387 / CA / 221 / 36.5% / 79 / 37.8% / 1.09 / 0.77 / - / 1.53 / 114 / 38.5% / 1.09 / 0.81 / - / 1.47
AA / 49 / 8.1% / 20 / 9.6% / 1.15 / 0.65 / - / 2.03 / 24 / 8.1% / 1.13 / 0.66 / - / 1.92
p for trend = / 0.55 / p for trend = / 0.53
HSD17B4 / -27855G>T / TT / 166 / 30.4% / 46 / 23.8% / 1.00 / 73 / 26.8% / 1.00
rs2451818 / TG / 257 / 47.1% / 98 / 50.8% / 1.37 / 0.91 / - / 2.05 / 146 / 53.7% / 1.31 / 0.92 / - / 1.86
GG / 123 / 22.5% / 49 / 25.4% / 1.45 / 0.91 / - / 2.33 / 53 / 19.5% / 0.96 / 0.63 / - / 1.49
p for trend = / 0.11 / p for trend = / 0.97
-18796A>T / AA / 437 / 72.7% / 143 / 69.8% / 1.00 / 216 / 73.5% / 1.00
rs384346 / AT / 153 / 25.5% / 59 / 28.8% / 1.16 / 0.81 / - / 1.67 / 77 / 26.2% / 1.05 / 0.76 / - / 1.45
TT / 11 / 1.8% / 3 / 1.5% / 0.92 / 0.25 / - / 3.37 / 1 / 0.3% / 0.18 / 0.02 / - / 1.44
p for trend = / 0.51 / p for trend = / 0.62
-2124A>T / AA / 441 / 76.0% / 152 / 75.6% / 1.00 / 218 / 76.8% / 1.00
rs28943585 / AT / 130 / 22.4% / 47 / 23.4% / 1.07 / 0.73 / - / 1.58 / 62 / 21.8% / 0.96 / 0.68 / - / 1.36
TT / 9 / 1.6% / 2 / 1.0% / 0.75 / 0.16 / - / 3.53 / 4 / 1.4% / 0.86 / 0.26 / - / 2.87
p for trend = / 0.88 / p for trend = / 0.76
-601A>C / CC / 456 / 75.5% / 154 / 73.7% / 1.00 / 225 / 76.0% / 1.00
rs28943586 / CA / 140 / 23.2% / 53 / 25.4% / 1.16 / 0.80 / - / 1.68 / 67 / 22.6% / 0.96 / 0.68 / - / 1.34
AA / 8 / 1.3% / 2 / 1.0% / 0.86 / 0.18 / - / 4.11 / 4 / 1.4% / 0.98 / 0.29 / - / 3.35
p for trend = / 0.53 / p for trend = / 0.82
IVS1-178G>A / GG / 166 / 27.5% / 60 / 28.6% / 1.00 / 66 / 22.4% / 1.00
rs32651 / GA / 302 / 50.1% / 102 / 48.6% / 0.93 / 0.64 / - / 1.35 / 160 / 54.2% / 1.36 / 0.96 / - / 1.94
AA / 135 / 22.4% / 48 / 22.9% / 1.01 / 0.65 / - / 1.58 / 69 / 23.4% / 1.28 / 0.85 / - / 1.93
p for trend = / 0.99 / p for trend = / 0.23
Ex6+15G>A (R106H) / GG / 179 / 29.6% / 64 / 30.3% / 1.00 / 75 / 25.4% / 1.00
rs25640 / GA / 295 / 48.8% / 104 / 49.3% / 1.00 / 0.69 / - / 1.45 / 158 / 53.6% / 1.28 / 0.91 / - / 1.80
AA / 130 / 21.5% / 43 / 20.4% / 0.96 / 0.61 / - / 1.51 / 62 / 21.0% / 1.14 / 0.75 / - / 1.72
p for trend = / 0.87 / p for trend = / 0.47
IVS8+4959C>G / GG / 187 / 30.9% / 62 / 29.4% / 1.00 / 88 / 29.9% / 1.00
rs2455463 / GC / 294 / 48.6% / 100 / 47.4% / 0.98 / 0.68 / - / 1.42 / 160 / 54.4% / 1.20 / 0.87 / - / 1.66
CC / 124 / 20.5% / 49 / 23.2% / 1.18 / 0.75 / - / 1.83 / 46 / 15.6% / 0.80 / 0.52 / - / 1.23
p for trend = / 0.52 / p for trend = / 0.51
IVS11-1203G>A / AA / 196 / 32.4% / 56 / 26.8% / 1.00 / 99 / 33.6% / 1.00
rs426899 / AG / 284 / 46.9% / 107 / 51.2% / 1.35 / 0.93 / - / 1.96 / 145 / 49.2% / 1.00 / 0.73 / - / 1.38
GG / 125 / 20.7% / 46 / 22.0% / 1.29 / 0.82 / - / 2.04 / 51 / 17.3% / 0.80 / 0.53 / - / 1.21
p for trend = / 0.22 / p for trend = / 0.36
IVS22+74G>C / GG / 255 / 42.9% / 90 / 44.1% / 1.00 / 109 / 37.8% / 1.00
rs17145464 / GC / 273 / 46.0% / 91 / 44.6% / 0.97 / 0.69 / - / 1.36 / 140 / 48.6% / 1.20 / 0.88 / - / 1.63
CC / 66 / 11.1% / 23 / 11.3% / 0.95 / 0.55 / - / 1.62 / 39 / 13.5% / 1.41 / 0.88 / - / 2.24
p for trend = / 0.81 / p for trend = / 0.11
IVS23-34C>T / CC / 464 / 76.6% / 158 / 74.9% / 1.00 / 229 / 77.6% / 1.00
rs28943593 / CT / 132 / 21.8% / 51 / 24.2% / 1.18 / 0.81 / - / 1.72 / 62 / 21.0% / 0.93 / 0.66 / - / 1.31
TT / 10 / 1.7% / 2 / 0.9% / 0.66 / 0.14 / - / 3.07 / 4 / 1.4% / 0.77 / 0.23 / - / 2.51
p for trend = / 0.60 / p for trend = / 0.57
Ex24-86->A / AA / 169 / 32.5% / 49 / 26.1% / 1.00 / 83 / 32.4% / 1.00
rs34381335 / A- / 239 / 46.0% / 95 / 50.5% / 1.39 / 0.93 / - / 2.08 / 125 / 48.8% / 1.07 / 0.75 / - / 1.52
-- / 112 / 21.5% / 44 / 23.4% / 1.38 / 0.86 / - / 2.23 / 48 / 18.8% / 0.85 / 0.55 / - / 1.32
p for trend = / 0.15 / p for trend = / 0.57
13225bp 3' of STP A>G / AA / 193 / 31.9% / 58 / 27.5% / 1.00 / 102 / 34.6% / 1.00
rs246965 / AG / 284 / 46.9% / 106 / 50.2% / 1.27 / 0.87 / - / 1.84 / 143 / 48.5% / 0.95 / 0.69 / - / 1.31
GG / 128 / 21.2% / 47 / 22.3% / 1.23 / 0.78 / - / 1.93 / 50 / 16.9% / 0.73 / 0.49 / - / 1.11
p for trend = / 0.32 / p for trend = / 0.17
AR / Ex1-978G>A / G / 497 / 83.1% / 174 / 83.7% / 1.00 / 232 / 80.6% / 1.00
rs6152 / A / 101 / 16.9% / 34 / 16.3% / 0.94 / 0.61 / - / 1.45 / 56 / 19.4% / 1.19 / 0.82 / - / 1.72
IVS1-458G>A / G / 503 / 83.3% / 174 / 83.7% / 1.00 / 237 / 80.3% / 1.00
rs1204038 / A / 101 / 16.7% / 34 / 16.3% / 0.96 / 0.63 / - / 1.48 / 58 / 19.7% / 1.23 / 0.85 / - / 1.77
IVS3+15670G>A / A / 565 / 93.4% / 193 / 91.5% / 33.00 / 268 / 90.8% / 33.00
rs1337080 / G / 40 / 6.6% / 18 / 8.5% / 1.32 / 0.73 / - / 2.37 / 27 / 9.2% / 1.34 / 0.80 / - / 2.26
aAnalyses adjusted for serum collection date and birth year.
bDifferences between cell counts and total number of cases and controls are due to missing genotype data.
Supplemental Table 3. CYP1A1, HSD17B1, HSD17B4, and AR haplotypes and TGCT risk among white subjects controlling for serum collection data and birth year.
A dot (.) indicates the common allele.
Polymorphic bases are in 5’-3’: CYP1A1 rs2472299, rs11632547, rs4886605, rs12441817, rs17861115, rs7495708, rs2470893, rs2606345, rs4646421, rs1048943, rs4646903, rs1456432, rs2198843;-HSD17B1 rs2830 and rs676387; HSD17B4 rs2451818, rs384346, rs28943585, rs28943586, rs32651, rs25640, rs2455463, rs426899, rs17145464, rs28943593, rs34381335, rs246965; AR rs6152 , rs1204038, rs1337080. CYP17A1 is not shown since the 3 SNPs genotyped were highly correlated (r2 >0.90).
CYP1A1 / N=608 / N=508 / All TGCT / N=211 / Seminomas / N=297 / NonseminomasControl / Cases / OR / 95%CI / Cases / OR / 95%CI / Cases / OR / 95%CI
Referent haplotype / C / C / G / A / G / A / G / T / C / A / T / A / G / 0.209 / 0.220 / 1.00 / 0.219 / 1.00 / 0.218 / 1.00
. / . / . / . / . / . / A / . / . / . / . / . / . / 0.316 / 0.326 / 0.96 / 0.75 / 1.22 / 0.324 / 0.97 / 0.70 / 1.35 / 0.324 / 0.93 / 0.69 / 1.24
. / . / . / . / . / . / . / G / . / . / . / . / . / 0.040 / 0.034 / 0.80 / 0.47 / 1.34 / 0.044 / 1.03 / 0.54 / 1.96 / 0.027 / 0.67 / 0.34 / 1.32
T / . / . / . / . / . / . / G / . / . / . / . / . / 0.114 / 0.111 / 0.92 / 0.68 / 1.25 / 0.104 / 0.87 / 0.57 / 1.33 / 0.117 / 0.92 / 0.64 / 1.33
T / . / . / . / . / . / . / . / . / . / . / . / . / 0.123 / 0.144 / 1.07 / 0.79 / 1.46 / 0.135 / 1.02 / 0.68 / 1.54 / 0.154 / 1.06 / 0.73 / 1.53
. / . / A / . / . / G / . / G / . / . / . / G / C / 0.055 / 0.042 / 0.70 / 0.45 / 1.09 / 0.057 / 0.99 / 0.58 / 1.71 / 0.029 / 0.49 / 0.28 / 0.89
. / . / A / . / . / G / . / G / T / . / C / G / C / 0.014 / 0.011 / 0.75 / 0.34 / 1.68 / 0.017 / 1.10 / 0.43 / 2.84 / 0.007 / 0.44 / 0.14 / 1.41
. / . / A / G / . / G / . / G / T / . / C / G / C / 0.031 / 0.018 / 0.55 / 0.29 / 1.01 / 0.015 / 0.55 / 0.22 / 1.38 / 0.022 / 0.53 / 0.25 / 1.09
. / . / A / G / A / G / . / G / T / G / C / G / C / 0.032 / 0.036 / 1.01 / 0.61 / 1.69 / 0.036 / 1.15 / 0.58 / 2.30 / 0.036 / 0.90 / 0.49 / 1.67
. / T / A / G / . / G / . / G / T / . / C / G / C / 0.011 / 0.012 / 0.94 / 0.41 / 2.17 / 0.008 / - / - / - / 0.013 / 0.96 / 0.37 / 2.46
N=608 / N=508 / All TGCT / N=211 / Seminomas / N=297 / Nonseminomas
HSD17B1 / Control / Cases / OR / 95%CI / Cases / OR / 95%CI / Cases / OR / 95%CI
Referent haplotype / G / C / 0.493 / 0.511 / 1.00 / 0.503 / 1.00 / 0.516 / 1.00
. / A / 0.044 / 0.067 / 1.56 / 1.00 / 2.42 / 0.065 / 1.49 / 0.84 / 2.65 / 0.069 / 1.63 / 0.97 / 2.74
A / . / 0.244 / 0.211 / 0.85 / 0.69 / 1.06 / 0.213 / 0.92 / 0.68 / 1.23 / 0.210 / 0.82 / 0.63 / 1.07
A / A / 0.220 / 0.210 / 0.94 / 0.77 / 1.16 / 0.219 / 0.98 / 0.75 / 1.29 / 0.204 / 0.92 / 0.71 / 1.18
HSD17B4 / N=608 / N=508 / All TGCT / N=211 / Seminomas / N=297 / Nonseminomas
Control / Cases / OR / 95%CI / Cases / OR / 95%CI / Cases / OR / 95%CI
Common Allele / T / A / A / C / G / G / G / A / G / C / A / A
Referent haplotype / . / . / . / . / A / A / . / . / C / . / . / . / 0.302 / 0.311 / 1.00 / 0.287 / 1.00 / 0.328 / 1.00
. / . / . / . / . / . / C / . / . / . / . / . / 0.058 / 0.046 / 0.78 / 0.51 / 1.20 / 0.037 / 0.62 / 0.33 / 1.16 / 0.052 / 0.89 / 0.54 / 1.46
. / . / T / A / A / A / . / . / . / T / . / . / 0.118 / 0.111 / 0.93 / 0.69 / 1.25 / 0.116 / 1.08 / 0.72 / 1.60 / 0.108 / 0.84 / 0.59 / 1.20
G / . / . / . / . / . / . / G / . / . / - / G / 0.071 / 0.077 / 1.03 / 0.72 / 1.45 / 0.068 / 0.96 / 0.59 / 1.56 / 0.084 / 1.06 / 0.70 / 1.60
G / . / . / . / . / . / C / . / . / . / . / . / 0.017 / 0.019 / 1.07 / 0.54 / 2.13 / 0.018 / 1.00 / 0.40 / 2.49 / 0.020 / 1.06 / 0.47 / 2.38
G / . / . / . / . / . / C / G / . / . / - / G / 0.213 / 0.211 / 0.98 / 0.77 / 1.24 / 0.240 / 1.20 / 0.88 / 1.63 / 0.189 / 0.82 / 0.62 / 1.09
G / . / . / . / A / A / . / . / C / . / . / . / 0.008 / 0.014 / 1.91 / 0.77 / 4.76 / 0.013 / - / - / - / 0.015 / 2.10 / 0.75 / 5.91
G / T / . / . / . / . / C / G / . / . / - / G / 0.140 / 0.137 / 0.96 / 0.72 / 1.28 / 0.143 / 1.09 / 0.75 / 1.59 / 0.133 / 0.89 / 0.63 / 1.25
AR / N=608 / N=508 / All TGCT / N=211 / Seminomas / N=297 / Nonseminomas
Control / Cases / OR / 95%CI / Cases / OR / 95%CI / Cases / OR / 95%CI
Referent haplotype / G / G / A / 0.829 / 0.817 / 1.00 / 0.834 / 1.00 / 0.805 / 1.00
A / A / . / 0.102 / 0.090 / 0.95 / 0.77 / 1.16 / 0.081 / 0.87 / 0.65 / 1.16 / 0.096 / 1.01 / 0.79 / 1.28
A / A / G / 0.063 / 0.090 / 1.20 / 0.95 / 1.50 / 0.085 / 1.17 / 0.87 / 1.58 / 0.093 / 1.19 / 0.92 / 1.55
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