Table 2.
Mutations and their allele frequencies observed in the OGG1 gene in breast cancer patients.
|
Mutation/exon Chr3 (GRCh37) |
Patients | Controls | aOdds ratio (95% CI) | b p value | ||
|---|---|---|---|---|---|---|
| Number | Allele frequency Minor/major |
Number | Allele frequency Minor/major |
|||
| g.9792260 insert_T Intron 1 | 34 | T 0.09/0.91 | 07 | T 0.35/0.65 | 3.80 (1.67 to 8.66) | 0.001 |
| g.9793680G>A Intron 3 (rs55846930) | 19 | A 0.05/G 0.95 | 00 | A 00/G 1.0 | 14.65 (1.95 to 109.90) | 0.009 |
| g.9793748G>A Intron 3 | 14 | A 0.04/G 0.96 | 00 | A 00/G 1.0 | 10.70 (1.40 to 81.64) | 0.02 |
| g.9798336T>G Intron 5 | 10 | G 0.03/T 0.97 | 06 | G 0.40/T 0.60 | 1.25 (0.45 to 3.46) | 0.67 |
| g.9798349T>A Intron 5 | 34 | A 0.09/T 0.91 | 02 | A 0.10/T0.90 | 13.30 (3.18 to 55.70) | 0.0004 |
| g.9792109delT splice site Intron 1 | 26 | 0.07/T 0.93 | 00 | 00/T 1.0 | 20.07 (2.71 to 148.53) | 0.003 |
| g.9798307T>G splice site Intron 5 | 16 | G 0.04/T 0.96 | 00 | G 00/T 1.0 | 12.11 (1.60 to 91.70) | 0.01 |
| g.9798502T>G splice site Intron 6 | 18 | G 0.05/T 0.95 | 00 | G 00/T 1.0 | 13.68 (1.82 to 102.90) | 0.01 |
| g.9800972T>G splice site intron 7a | 36 | G 0.10/T 0.90 | 00 | G 00/T 1.0 | 28.85 (3.87 to 207.70) | 0.001 |
| g.9798848G>A 3′UTR | 37 | A 0.10/G 0.90 | 00 | A 00/G 1.0 | 29.20 (3.98 to 213.74) | 0.001 |
| g.9798896T>C 3′UTR | 48 | C 0.13/T 0.87 | 03 | C 0.15/T 0.85 | 12.85 (3.97 to 41.56) | <0.0001 |
| g.9793544T>G Exon 3, Val159Gly | 18 | G 0.05/T 0.95 | 00 | G 00/T 1.0 | 13.68 (1.82 to 102.90) | 0.01 |
| g.9796483G>A Exon 4, Gly221Arg (TMP_ESP_3_9796483) | 22 | A 0.06/G 0.94 | 00 | A 00/G 1.0 | 16.85 (2.26 to 125.53) | 0.005 |
| g.9798773C>G Exon 6d Ser326Cys (rs1052133) (CM993185) | 24 | G 0.06/C 0.94 | 00 | G 00/C 1.0 | 18.45 (2.49 to 136.99) | 0.004 |
| g.9807669G>A Exon 8, Trp375STOP | 17 | A 0.05/G 0.95 | 00 | A 00/G 1.0 | 12.90 (1.71 to 97.28) | 0.01 |
OR: odds ratio; CI: confidence interval. aORs for logistic regression analysis. b p < 0.05, by χ 2-test for trend.