Skip to main content

Advertisement

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.

From: Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study

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)
  1. aORs were adjusted for: age at diagnosis (≤30, 31-49, 50-69, and ≥70 years), the lower age group being the referent class; alcohol consumption (never, social, and regular drinkers), never drinkers being the referent group; and smoking habits (smokers/non-smokers), non-smokers being the referent group.
  2. Data in bold highlights the statistic significant results (p < 0.05). P values are adjusted by unconditional multiplicative logistic regression.