Table 4.
Genotype distributions of 24 candidate modifier SNPs and hazard ratio estimates for BRCA2 mutation carriers
| SNP | Gene | Minor allele | MAF | Heterozygous | Homozygous | Per allele | P trend | |||
|---|---|---|---|---|---|---|---|---|---|---|
| HR | 95% CI | HR | 95% CI | HR | 95% CI | |||||
| rs7026988 | ABL1 | A | 0.12 | 0.96 | 0.73 to 1.26 | 0.93 | 0.41 to 2.10 | 0.96 | 0.76 to 1.20 | 0.713 |
| rs3808814 | ABL1 | A | 0.09 | 0.72 | 0.51 to 1.02 | 0.50 | 0.17 to 1.42 | 0.71 | 0.53 to 0.97 | 0.030 |
| rs1889532 | ARHGEF2 | G | 0.25 | 1.32 | 1.05 to 1.67 | 0.99 | 0.64 to 1.54 | 1.13 | 0.95 to 1.33 | 0.172 |
| rs10242920 | ELMO1 | A | 0.24 | 1.01 | 0.79 to 1.30 | 0.86 | 0.52 to 1.43 | 0.97 | 0.80 to 1.17 | 0.747 |
| rs6964474 | ELMO1 | C | 0.22 | 1.09 | 0.86 to 1.40 | 1.47 | 0.89 to 2.45 | 1.15 | 0.95 to 1.39 | 0.153 |
| rs2541095 | ELMO1 | G | 0.12 | 1.04 | 0.8 to 1.35 | 0.72 | 0.27 to 1.94 | 1.00 | 0.78 to 1.26 | 0.971 |
| rs6956864 | ELMO1 | G | 0.41 | 0.76 | 0.48 to 1.18 | 2.20 | 0.16 to 29.7 | 0.78 | 0.50 to 1.22 | 0.279 |
| rs1559949 | HNRPDL | G | 0.14 | 1.29 | 0.96 to 1.72 | 2.06 | 0.99 to 4.28 | 1.33 | 1.04 to 1.70 | 0.021 |
| rs4285076 | HNRPDL | A | 0.29 | 0.86 | 0.67 to 1.09 | 1.47 | 0.95 to 2.26 | 1.03 | 0.85 to 1.25 | 0.737 |
| rs4787956 | IL4R | G | 0.34 | 1.10 | 0.87 to 1.41 | 1.31 | 0.90 to 1.91 | 1.13 | 0.95 to 1.35 | 0.167 |
| rs16976728 | IL4R | A | 0.38 | 1.16 | 0.91 to 1.48 | 1.38 | 0.95 to 1.99 | 1.17 | 0.98 to 1.39 | 0.075 |
| rs480092 | LSM2 | G | 0.16 | 0.92 | 0.72 to 1.18 | 1.09 | 0.55 to 2.16 | 0.96 | 0.78 to 1.19 | 0.735 |
| rs2253820 | PER1 | A | 0.17 | 0.85 | 0.70 to 1.02 | 1.13 | 0.68 to 1.87 | 0.90 | 0.77 to 1.06 | 0.209 |
| rs4888201 | PLCG2 | A | 0.16 | 0.98 | 0.75 to 1.27 | 1.16 | 0.54 to 2.52 | 1.01 | 0.80 to 1.27 | 0.964 |
| rs10514519 | PLCG2 | A | 0.18 | 0.85 | 0.66 to 1.09 | 1.92 | 0.95 to 3.88 | 0.99 | 0.79 to 1.24 | 0.933 |
| rs4997772 | PLCG2 | A | 0.39 | 1.21 | 0.95 to 1.55 | 1.26 | 0.89 to 1.78 | 1.14 | 0.97 to 1.34 | 0.107 |
| rs3936112 | PLCG2 | A | 0.39 | 0.91 | 0.76 to 1.09 | 0.94 | 0.73 to 1.22 | 0.96 | 0.85 to 1.08 | 0.483 |
| rs4254419 | PLD3 | A | 0.15 | 0.95 | 0.73 to 1.22 | 0.74 | 0.36 to 1.51 | 0.92 | 0.74 to 1.14 | 0.448 |
| rs10758 | SLC20A1 | G | 0.26 | 1.12 | 0.88 to 1.42 | 1.11 | 0.67 to 1.84 | 1.08 | 0.90 to 1.30 | 0.388 |
| rs3825977 | SMAD3 | A | 0.20 | 1.10 | 0.91 to 1.33 | 1.83 | 1.23 to 2.73 | 1.20 | 1.03 to 1.40 | 0.018 |
| rs7166081 | SMAD3 | G | 0.24 | 1.17 | 0.97 to 1.42 | 1.74 | 1.21 to 2.49 | 1.25 | 1.07 to 1.45 | 0.004 |
| rs3777663 | THEM2 | G | 0.24 | 0.95 | 0.75 to 1.21 | 1.11 | 0.69 to 1.79 | 0.99 | 0.82 to 1.20 | 0.945 |
| rs2075642 | TOMM40 | A | 0.20 | 1.14 | 0.89 to 1.46 | 1.19 | 0.68 to 2.09 | 1.12 | 0.92 to 1.37 | 0.267 |
| rs12211125 | VNN2 /VNN3 | G | 0.09 | 1.01 | 0.81 to 1.26 | 1.31 | 0.49 to 3.56 | 1.02 | 0.83 to 1.26 | 0.818 |
MAF, minor allele frequency; HR, hazard ratio; CI, confidence interval.