Table 2 Genotype and allele distribution of ERCC2 and MTHFR polymorphisms in breast cancer cases and controls
SNP (gene) | Genotype | Cases (n, %) | Controls (n, %) | OR (95% CI)a | p b |
|---|---|---|---|---|---|
rs1799793 (ERCC2) | |||||
 Codominant | G/G | 76 (50.3) | 81 (51.9) | 1 |  |
  Heterozygote | G/A | 50 (33.1) | 65 (41.7) | 0.82 (0.51–1.33) | 0.42 |
  Homozygote | A/A | 25 (16.6) | 10 (6.4) | 2.66 (1.20–5.91) | 0.016 |
 Dominant | G/G | 76 (50.3) | 81 (51.9) | 1 | 0.78 |
G/A-A/A | 75 (49.7) | 75 (48.1) | 1.07 (0.68–1.67) | ||
 Recessive | G/G-G/A | 126 (83.4) | 146 (93.6) | 1 | 0.0069 |
A/A | 25 (16.6) | 10 (6.4) | 2.90 (1.34–6.26) | ||
 Overdominant | G/G-A/A | 101 (66.9) | 91 (58.3) | 1 | 0.12 |
G/A | 50 (33.1) | 65 (41.7) | 0.69 (0.44–1.10) | ||
 Log-additive | – | – | – | 1.29 (0.93–1.79) | 0.13 |
 Allele | G | 202 (67) | 227 (73) | 1 | 0.11 |
A | 100 (33) | 85 (27) | 1.32 (0.94–1.87) | ||
 HWE |  | p = 0.002 | p = 0.52 |  |  |
rs13181 (ERCC2) | |||||
 Codominant | A/A | 80 (53) | 91 (58.3) | 1 |  |
  Heterozygote | C/A | 50 (33.1) | 52 (33.3) | 1.09 (0.67–1.79) | 0.72 |
  Homozygote | C/C | 21 (13.9) | 13 (8.3) | 1.84 (0.86–3.91) | 0.11 |
 Dominant | A/A | 80 (53) | 91 (58.3) | 1 | 0.34 |
C/A-C/C | 71 (47) | 65 (41.7) | 1.24 (0.79–1.95) | ||
 Recessive | A/A-C/A | 130 (86.1) | 143 (91.7) | 1 | 0.12 |
C/C | 21 (13.9) | 13 (8.3) | 1.78 (0.86–3.69) | ||
 Overdominant | A/A-C/C | 101 (66.9) | 104 (66.7) | 1 | 0.97 |
C/A | 50 (33.1) | 52 (33.3) | 0.99 (0.62–1.59) | ||
 Log-additive | – | – | – | 1.26 (0.91–1.76) | 0.16 |
 Allele | A | 210 (70) | 234 (75) | 1 | 0.13 |
C | 92 (30) | 78 (25) | 1.31 (0.92–1.87) | ||
 HWE |  | p = 0.007 | p = 0.16 |  |  |
rs1801133 (MTHFR) | |||||
 Codominant | C/C | 73 (48.3) | 80 (51.3) | 1 |  |
  Heterozygote | T/C | 54 (35.8) | 65 (41.7) | 0.91 (0.56–1.47) | 0.70 |
  Homozygote | T/T | 24 (15.9) | 11 (7) | 2.39 (1.09–5.22) | 0.028 |
 Dominant | C/C | 73 (48.3) | 80 (51.3) | 1 | 0.6 |
T/C-T/T | 78 (51.7) | 76 (48.7) | 1.12 (0.72–1.76) | ||
 Recessive | C/C-T/C | 127 (84.1) | 145 (93) | 1 | 0.017 |
T/T | 24 (15.9) | 11 (7) | 2.49 (1.17–5.29) | ||
 Overdominant | C/C-T/T | 97 (64.2) | 91 (58.3) | 1 | 0.29 |
T/C | 54 (35.8) | 65 (41.7) | 0.78 (0.49–1.24) | ||
 Log-additive | – | – | – | 1.29 (0.93–1.80) | 0.13 |
 Allele | C | 200 (66) | 225 (72) |  | 0.11 |
T | 102 (34) | 87 (28) | 0.76 (0.54–1.07) | ||
 HWE |  | p = 0.013 | p = 0.65 |  |  |
rs1801131 (MTHFR) | |||||
 Codominant | A/A | 83 (55) | 86 (55.1) | 1 |  |
  Heterozygote | C/A | 59 (39.1) | 60 (38.5) | 1.02 (0.64–1.63) | 0.94 |
  Homozygote | C/C | 9 (6) | 10 (6.4) | 0.93 (0.36–2.41) | 0.88 |
 Dominant | A/A | 83 (55) | 86 (55.1) | 1 | 0.98 |
C/A-C/C | 68 (45) | 70 (44.9) | 1.01 (0.64–1.58) | ||
 Recessive | A/A-C/A | 142 (94) | 146 (93.6) | 1 | 0.87 |
C/C | 9 (6) | 10 (6.4) | 0.93 (0.37–2.34) | ||
 Overdominant | A/A-C/C | 92 (60.9) | 96 (61.5) | 1 | 0.91 |
C/A | 59 (39.1) | 60 (38.5) | 1.03 (0.65–1.62) | ||
 Log-additive | – | – | – | 0.99 (0.69–1.43) | 0.97 |
 Allele | A | 225 (75) | 232 (74) | 1 | 0.97 |
C | 77 (25) | 80 (26) | 0.99 (0.69–1.42) | ||
 HWE |  | p = 0.72 | p = 0.91 |  |  |