Table 2. Associations* between genotypes and risk of ovarian carcinoma among white non-Hispanic subjects in OCAC.
| Gene/SNP | SNP region | Studies | Cases/Controls | MAF | Het OR (95% CI) | Hom OR (95% CI) | P 2df | Ordinal OR (95% CI) | P trend |
|---|---|---|---|---|---|---|---|---|---|
|
DNMT3A rs13420827 |
2p23 3′ UTR C/G | Initial report† | 829/941 | 0.19 | 0.82 (0.66-1.02) | 1.52 (0.91-2.56) | 0.03 | 0.96 (0.81-1.15) | 0.68 |
| 14 OCAC replication studies‡ | 4,788/8,776 | 0.18 | 1.06 (0.98-1.14) | 1.13 (0.93-1.38) | 0.20 | 1.06 (0.99-1.13) | 0.07 | ||
| All § | 5,404/9,626 | 0.18 | 1.03 (0.96-1.11) | 1.17 (0.98-1.41) | 0.20 | 1.05 (0.99-1.11) | 0.13 | ||
|
DPYD rs1801265 |
1p22 EX2 A/G Arg29Cys |
Initial report† | 829/941 | 0.21 | 1.27 (1.04-1.56) | 1.42 (0.89-2.26) | 0.04 | 1.22 (1.05-1.46) | 0.01 |
| 13 OCAC replication studies‡ | 4,661/8,382 | 0.21 | 0.93 (0.86-1.01) | 1.06 (0.89-1.23) | 0.15 | 0.97 (0.91-1.04) | 0.40 | ||
| All § | 5,277/9,232 | 0.21 | 0.97 (0.90-1.04) | 1.10 (0.93-1.30) | 0.28 | 1.00 (0.94-1.06) | 0.99 | ||
|
MTHFD1 rs1950902 |
14q24 EX6 G/A Arg134Lys |
Initial report† | 829/941 | 0.20 | 0.89 (0.72-1.09) | 0.52 (0.29-0.94) | 0.06 | 0.83 (0.69-0.99) | 0.04 |
| 14 OCAC replication studies‡ | 4,579/8,426 | 0.18 | 0.98 (0.90-1.06) | 1.00 (0.82-1.23) | 0.85 | 0.99 (0.92-1.05) | 0.68 | ||
| All § | 5,195/9,276 | 0.18 | 0.97 (0.90-1.05) | 0.94 (0.77-1.14) | 0.63 | 0.97 (0.91-1.03) | 0.34 | ||
|
MTHFS rs17284990 |
15q25.1 IVS2 T/C |
Initial report† | 829/941 | 0.23 | 0.87 (0.70-1.07) | 1.63 (1.08-2.46) | 0.01 | 1.06 (0.90-1.24) | 0.49 |
| 10 OCAC replication studies‡ | 3,472/5,683 | 0.22 | 0.94 (0.86-1.04) | 1.06 (0.88-1.29) | 0.33 | 0.98 (0.92-1.06) | 0.67 | ||
| All § | 4,088/6,533 | 0.22 | 0.92 (0.85-1.01) | 1.12 (0.94-1.33) | 0.06 | 0.98 (0.92-1.05) | 0.66 | ||
|
TYMS rs495139 |
18p11.32 3′ downstream G/C |
Initial report† | 829/941 | 0.39 | 1.06 (0.86-1.32) | 1.36 (1.02-1.81) | 0.10 | 1.15 (1.00-1.32) | 0.05 |
| 13 OCAC replication studies‡ | 4,365/7,560 | 0.41 | 1.03 (0.95-1.12) | 0.97 (0.87-1.09) | 0.49 | 0.99 (0.94-1.05) | 0.81 | ||
| All § | 4,981/8,410 | 0.41 | 1.04 (0.96-1.12) | 1.01 (0.91-1.13) | 0.64 | 1.01 (0.96-1.06) | 0.63 | ||
SNP, single nucleotide polymorphism; MAF, minor allele frequency among controls only; Het, heterozygotes; Hom, homozygous minor allele carriers; SNP, single nucleotide polymorphism
Bold text indicates significant associations observed in the initial report (3)
*
Adjusted for age and study
†
MAY and NCO1 studies from which the initial findings were reported (3)
‡
OCAC studies excluding MAY and NCO1; additional studies were excluded if they did not meet quality control criteria (see Methods)
§
OCAC studies including MAY and NCO1; samples do not total 5,593 cases and 9,962 controls from application of quality control criteria (see Methods)