Table II.
Top 30 SNPs associated to LC among the 1.655 SNPs in or nearby DNA repair genes
| SNP | Gene | Pathway | Chromosome | Allele |
MAF |
Adjusted OR per allele | 95% CI | P | ||
| Minor | Other | Cases | Controls | |||||||
| rs3131379 | MSH5 | MMR | 6 | A | G | 0.114 | 0.091 | 1.30 | 1.15–1.47 | 3.57 × 10−5 |
| rs249633 | MSH3 | MMR | 5 | G | A | 0.258 | 0.241 | 1.18 | 1.08–1.29 | 2.18 × 10−4 |
| rs1745335 | POLN | POL | 4 | A | G | 0.125 | 0.106 | 1.25 | 1.11–1.40 | 2.70 × 10−4 |
| rs529966 | POLN | POL | 4 | G | A | 0.125 | 0.106 | 1.24 | 1.10–1.40 | 3.04 × 10−4 |
| rs2736100 | TERT | POL | 5 | C | A | 0.515 | 0.476 | 1.15 | 1.07–1.24 | 3.07 × 10−4 |
| rs9328764 | POLN | POL | 4 | A | G | 0.126 | 0.108 | 1.24 | 1.10–1.40 | 3.13 × 10−4 |
| rs7659386 | POLN | POL | 4 | C | T | 0.126 | 0.108 | 1.24 | 1.10–1.40 | 3.31 × 10−4 |
| rs4678 | GTF2H4 | NER | 6 | A | G | 0.231 | 0.200 | 1.18 | 1.08–1.30 | 3.51 × 10−4 |
| rs10011549 | POLN | POL | 4 | T | C | 0.126 | 0.108 | 1.24 | 1.10–1.39 | 3.75 × 10−4 |
| rs10018786 | POLN | POL | 4 | G | T | 0.126 | 0.108 | 1.24 | 1.10–1.39 | 4.09 × 10−4 |
| rs6830513 | POLN | POL | 4 | C | T | 0.126 | 0.108 | 1.24 | 1.10–1.39 | 4.29 × 10−4 |
| rs9534262 | BRCA2 | HR | 13 | T | C | 0.486 | 0.450 | 1.15 | 1.06–1.24 | 4.89 × 10−4 |
| rs4942486 | BRCA2 | HR | 13 | T | C | 0.487 | 0.450 | 1.14 | 1.06–1.24 | 5.75 × 10−4 |
| rs7893335 | MMS19L | NER | 10 | G | T | 0.148 | 0.166 | 0.85 | 0.76–0.94 | 1.47 × 10−3 |
| rs206079 | BRCA2 | HR | 13 | A | G | 0.446 | 0.407 | 1.12 | 1.04–1.21 | 2.78 × 10−3 |
| rs2236184 | RAD51L1 | HR | 14 | T | C | 0.307 | 0.291 | 1.14 | 1.04–1.23 | 2.79 × 10−3 |
| rs6599418 | POLN | POL | 4 | A | G | 0.383 | 0.396 | 0.89 | 0.82–0.96 | 3.64 × 10−3 |
| rs1012130 | BRCA2 | HR | 13 | C | T | 0.247 | 0.282 | 0.88 | 0.81–0.96 | 3.98 × 10−3 |
| rs4899246 | RAD51L1 | HR | 14 | G | A | 0.219 | 0.204 | 1.15 | 1.04–1.26 | 3.99 × 10−3 |
| rs7003908 | PRKDC | NHEJ | 8 | C | A | 0.370 | 0.353 | 1.12 | 1.04–1.22 | 4.04 × 10−3 |
| rs10055011 | POLK | POL | 5 | A | G | 0.104 | 0.122 | 0.84 | 0.74–0.95 | 4.70 × 10−3 |
| rs916962 | RAD51L1 | HR | 14 | A | G | 0.249 | 0.273 | 0.88 | 0.81–0.97 | 5.75 × 10−3 |
| rs206319 | BRCA2 | HR | 13 | G | A | 0.344 | 0.317 | 1.12 | 1.03–1.21 | 5.95 × 10−3 |
| rs2213178 | PRKDC | NHEJ | 8 | A | G | 0.312 | 0.301 | 1.12 | 1.03–1.22 | 5.97 × 10−3 |
| rs618262 | POLN | POL | 4 | C | A | 0.061 | 0.051 | 1.26 | 1.07–1.49 | 6.79 × 10−3 |
| rs3737559 | BRCA1 | HR | 17 | T | C | 0.090 | 0.106 | 0.84 | 0.74–0.95 | 7.19 × 10−3 |
| rs13411119 | FANCL | SDA | 2 | A | G | 0.299 | 0.281 | 1.12 | 1.03–1.22 | 7.25 × 10−3 |
| rs524051 | POLN | POL | 4 | A | G | 0.109 | 0.098 | 1.19 | 1.05–1.34 | 7.76 × 10−3 |
| rs206120 | BRCA2 | HR | 13 | G | A | 0.186 | 0.166 | 1.14 | 1.03–1.26 | 8.62 × 10−3 |
| rs11937432 | POLN | POL | 4 | G | A | 0.063 | 0.053 | 1.24 | 1.05–1.45 | 9.61 × 10−3 |
CI, confidence interval; MAF, minor allele frequencies; MMR: mismatch repair; NER, nucleotide excision repair; NHEJ, non-homologous end joining; P, P-value of the trend test of association adjusting for study, age, sex and tobacco smoking; POL, DNA polymerases.