Table 2.
Associationsa) between variants in genes in 1-C transfer and purine and pyrimidine metabolism pathways and risk of ovarian carcinoma stratified by total folate intake: 2,281 cases and 3,444 controls of European ancestry participants in OCAC.
| Total folate Intake ≤ 484 μg/d | Total folate intake > 484 μg/d | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Controls | Cases | Controls | Cases | |||||||||||||||||||
| Gene | SNP | AAb) | AB | BB | AA | AB | BB | OR | 95% CI lower |
95% CI upper |
P value |
AA | AB | BB | AA | AB | BB | OR | 95% CI lower |
95% CI upper |
P value |
P intc) |
| 1-C transfer | ||||||||||||||||||||||
| SHMT1d) | rs56001517 | 1506 | 232 | 8 | 991 | 162 | 5 | 1.05 | 0.85 | 1.29 | 0.656 | 1475 | 215 | 6 | 1011 | 108 | 2 | 0.70 | 0.55 | 0.89 | 0.004 | 0.012 |
| SHMT1 | rs7216214 | 1394 | 335 | 18 | 907 | 237 | 15 | 1.08 | 0.91 | 1.28 | 0.396 | 1341 | 340 | 13 | 925 | 182 | 12 | 0.76 | 0.63 | 0.92 | 0.004 | 0.006 |
| SHMT1 | rs4925179 | 711 | 786 | 250 | 501 | 526 | 131 | 0.88 | 0.79 | 0.99 | 0.03 | 703 | 775 | 217 | 469 | 509 | 144 | 1.03 | 0.92 | 1.16 | 0.606 | 0.048 |
| SHMT1 | rs2273026 | 1409 | 323 | 15 | 931 | 213 | 15 | 1.03 | 0.86 | 1.22 | 0.767 | 1363 | 322 | 11 | 938 | 172 | 11 | 0.77 | 0.64 | 0.94 | 0.008 | 0.027 |
| Purine metabolism | ||||||||||||||||||||||
| IMPD1d) | rs6948333 | 991 | 653 | 101 | 624 | 453 | 77 | 1.09 | 0.96 | 1.23 | 0.171 | 950 | 637 | 105 | 638 | 435 | 46 | 0.91 | 0.80 | 1.03 | 0.139 | 0.039 |
| PFAS | rs11649742 | 1049 | 606 | 92 | 721 | 378 | 60 | 0.93 | 0.82 | 1.06 | 0.257 | 1020 | 592 | 84 | 624 | 443 | 55 | 1.14 | 1.00 | 1.30 | 0.045 | 0.029 |
| PFAS | pos8110739 | 1659 | 85 | 0 | 1122 | 37 | 0 | 0.64 | 0.43 | 0.96 | 0.03 | 1630 | 64 | 2 | 1068 | 51 | 1 | 1.18 | 0.81 | 1.71 | 0.384 | 0.034 |
| Pyrimidine metabolism | ||||||||||||||||||||||
| CTPS | rs6675122 | 1030 | 611 | 106 | 615 | 475 | 69 | 1.18 | 1.04 | 1.33 | 0.009 | 960 | 619 | 118 | 624 | 442 | 56 | 0.98 | 0.86 | 1.11 | 0.706 | 0.034 |
| CTPS | rs41268101 | 1121 | 521 | 92 | 677 | 402 | 61 | 1.16 | 1.02 | 1.32 | 0.022 | 1026 | 568 | 88 | 670 | 387 | 45 | 0.95 | 0.83 | 1.09 | 0.441 | 0.034 |
| DPYD | rs667565 | 671 | 810 | 266 | 378 | 573 | 207 | 1.18 | 1.06 | 1.31 | 0.003 | 614 | 814 | 268 | 439 | 508 | 175 | 0.92 | 0.82 | 1.03 | 0.127 | 0.001 |
| DPYD | rs4520446 | 501 | 879 | 363 | 318 | 566 | 274 | 1.09 | 0.98 | 1.21 | 0.135 | 464 | 824 | 397 | 331 | 555 | 234 | 0.90 | 0.81 | 1.00 | 0.057 | 0.016 |
| DPYD | rs7522938 | 752 | 745 | 216 | 440 | 540 | 164 | 1.15 | 1.03 | 1.29 | 0.011 | 712 | 760 | 208 | 498 | 469 | 145 | 0.96 | 0.86 | 1.08 | 0.482 | 0.019 |
| DPYD | rs2811182 | 562 | 887 | 297 | 413 | 538 | 208 | 0.96 | 0.86 | 1.07 | 0.43 | 617 | 784 | 296 | 360 | 553 | 209 | 1.12 | 1.00 | 1.25 | 0.041 | 0.042 |
| DPYS | rs1962267 | 550 | 872 | 325 | 417 | 555 | 187 | 0.87 | 0.78 | 0.97 | 0.014 | 586 | 802 | 309 | 378 | 535 | 209 | 1.02 | 0.92 | 1.14 | 0.689 | 0.033 |
| DPYS | rs2853160 | 489 | 889 | 369 | 303 | 580 | 276 | 1.08 | 0.97 | 1.20 | 0.158 | 460 | 839 | 398 | 317 | 569 | 236 | 0.93 | 0.83 | 1.03 | 0.169 | 0.036 |
| DPYS | rs17834440 | 1295 | 427 | 25 | 908 | 239 | 12 | 0.82 | 0.69 | 0.97 | 0.018 | 1318 | 359 | 20 | 853 | 250 | 19 | 1.11 | 0.94 | 1.31 | 0.223 | 0.008 |
| DPYS | rs2853178 | 859 | 750 | 138 | 601 | 475 | 83 | 0.93 | 0.83 | 1.05 | 0.242 | 889 | 680 | 128 | 571 | 448 | 103 | 1.10 | 0.97 | 1.24 | 0.142 | 0.049 |
| DPYS | rs13263121 | 751 | 782 | 212 | 530 | 492 | 136 | 0.93 | 0.84 | 1.04 | 0.227 | 764 | 751 | 181 | 480 | 496 | 145 | 1.13 | 1.01 | 1.27 | 0.034 | 0.02 |
| DPYS | rs1319371 | 1053 | 613 | 81 | 672 | 422 | 65 | 1.10 | 0.97 | 1.25 | 0.157 | 1011 | 592 | 94 | 683 | 387 | 52 | 0.90 | 0.79 | 1.02 | 0.106 | 0.03 |
| DPYS | rs35450967 | 1034 | 626 | 87 | 654 | 435 | 70 | 1.11 | 0.98 | 1.26 | 0.1 | 982 | 616 | 99 | 671 | 397 | 54 | 0.88 | 0.77 | 1.01 | 0.061 | 0.012 |
| PPAT | rs13135046 | 516 | 857 | 374 | 362 | 579 | 216 | 0.91 | 0.82 | 1.01 | 0.079 | 519 | 837 | 338 | 314 | 569 | 239 | 1.08 | 0.96 | 1.20 | 0.198 | 0.023 |
| TYMS | rs2298582 | 1336 | 393 | 18 | 914 | 234 | 11 | 0.86 | 0.73 | 1.02 | 0.09 | 1356 | 327 | 14 | 864 | 235 | 22 | 1.21 | 1.02 | 1.44 | 0.027 | 0.006 |
Adjusted for age (continuous), study stratum and the first five eigenvalues from principal components analysis. SNP effect was determined using a log-additive logistic regression model.
Allele counts: AA=homozygous wildtype allele carriers; AB=heterozygous allele carriers; BB=homozygous variant allele carriers.
P-value for interaction.
SNP is located 5′ downstream of gene; all other SNPs are located in introns; ‘pos’ SNPs are novel and identified by chromosomal position.