Table 2 Genotypic frequencies and minor allele frequency (MAF) in control population (n = 547) and breast cancer cases (n = 287) and analysis of associations of individual SNPs with breast cancer risk.
SNPs | Genotypes | Controls | Cases | MAF | All cases | ||
|---|---|---|---|---|---|---|---|
n (%) | n (%) | Controls | Cases | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||
MSH3 Ala1045Thr A>G | Ala/Ala | 246 (45.2%) | 121 (42.3%) | 1 (Reference) | 1 (Reference) | ||
Ala/Thr | 240 (44.1%) | 129 (45.1%) | G: 0.33 (± 0.01) | G: 0.35 (± 0.02) | 1.09 (0.81-1.48) | 1.13 (0.83-1.55) | |
Thr/Thr | 58 (10.7%) | 36 (12.6%) | 1.26 (0.79-2.02) | 1.29 (0.80-2.09) | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||||
MSH3 Arg940Gln G>A | Arg/Arg | 371 (68.1%) | 182 (63.6%) | 1 (Reference) | 1 (Reference) | ||
Arg/Gln | 158 (29.0%) | 96 (33.6%) | A: 0.17 (± 0.012) | A: 0.20 (± 0.02) | 1.24 (0.91-1.69) | 1.23 (0.90-1.68) | |
Gln/Gln | 16 (2.9%) | 8 (2.8%) | 1.02 (0.43-2.43) | 1.03 (0.43-2.47) | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||||
MSH4 Asn914Ser G>A | Asn/Asn | 496 (91.0%) | 263 (91.6%) | 1 (Reference) | 1 (Reference) | ||
Asn/Ser | 49 (9.0%) | 23 (8.0%) | A: 0.05 (± 0.01) | A: 0.04 (± 0.01) | 0.89 (0.53-1.49) | 0.83 (0.49-1.41) | |
Ser/Ser | 0 (0%) | 1 (0.3%) | - | - | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||||
MSH4 Ala97Thr A>G | Ala/Ala | 260 (47.7%) | 145 (50.7%) | 1 (Reference) | 1 (Reference) | ||
Ala/Thr | 239 (43.9%) | 117 (40.9%) | G: 0.30 (± 0.01) | G: 0.29 (± 0.02) | 0.88 (0.65-1.19) | 0.85 (0.63-1.16) | |
Thr/Thr | 46 (8.4%) | 24 (8.4%) | 0.94 (0.55-1.60) | 1.03 (0.60-1.79) | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||||
MSH6 Gly39Glu C>T | Gly/Gly | 354 (65.1%) | 195 (68.2%) | 1 (Reference) | 1 (Reference) | ||
Gly/Glu | 174 (32%) | 79 (27.6%) | T: 0.19 (± 0.01) | T: 0.18 (± 0.02) | 0.82 (0.60-1.13) | 0.83 (0.60-1.15) | |
Glu/Glu | 16 (2.9%) | 12 (4.2%) | 1.36 (0.63-2.94) | 1.38 (0.62-3.03) | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||||
MLH1 Ile219Val A>G | Ile/Ile | 255 (46.7%) | 129 (44.9%) | 1 (Reference) | 1 (Reference) | ||
Ile/Val | 251 (46.0%) | 129 (44.9%) | G: 0.30 (± 0.01) | G: 0.33 (± 0.02) | 1.02 (0.75-1.37) | 1.01 (0.74-1.37) | |
Val/Val | 40 (7.3%) | 29 (10.1%) | 1.43 (0.85-2.42) | 1.35 (0.79-2.31) | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||||
MLH3 Leu844Pro G>A | Leu/Leu | 166 (30.5%) | 76 (26.6%) | 1 (Reference) | 1 (Reference) | ||
Leu/Pro | 283 (52%) | 141 (49.3%) | A: 0.43 (± 0.02) | A: 0.49 (± 0.02) | 0.69 (0.47-0.99) † | 0.65 (0.45-0.95) † | |
Pro/Pro | 95 (17.5%) | 69 (24.1%) | 0.63 (0.42-0.95) † | 0.62 (0.41-0.94) † | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI) a | ||||
PMS1 5'UTR Ex1-4 G>C | GG | 352 (64.7%) | 181 (63.5%) | 1 (Reference) | 1 (Reference) | ||
CG | 179 (32.9%) | 90 (31.6%) | C: 0.19 (± 0.01) | C: 0.21 (± 0.02) | 0.98 (0.72-1.33) | 1.01 (0.74-1.39) | |
CC | 13 (2.4%) | 14 (4.9%) | 2.09 (0.96-4.55) | 1.88 (0.85-4.15) | |||
n (%) | n (%) | Crude OR (95% CI) | Adjusted OR (95% CI)a | ||||
MUTYH His335Gln | His/His | 283 (51.7%) | 162 (56.4%) | 1 (Reference) | 1 (Reference) | ||
G>C | His/Gln | 235 (43.0%) | 107 (37.3%) | C: 0.27 (± 0.01) | C: 0.25 (± 0.02) | 0.80 (0.59-1.07) | 0.810 (0.60-1.10) |
Gln/Gln | 29 (5.3%) | 18 (6.3%) | 1.08 (0.58-2.01) | 1.053 (0.56-1.98) | |||