Table III.
Genotype distribution in case (n=106) and control (n=212) populations and associated DTC risk (crude and adjusted ORs).
| MAF | Genotype frequency | ||||||
|---|---|---|---|---|---|---|---|
| Genotype | Controls | Cases | Controls n (%) | Cases n (%) | P-valuea | OR (95% CI) | Adjusted OR (95% CI)b |
| MLH1 rs1799977 | 212 (100) | 105 (100) | |||||
| Ile/Ile | G: 0.34 | G: 0.30 | 93 (43.9) | 48 (45.7) | 0.42 | 1 (Reference)d | 1 (Reference)d |
| Ile/Val | 95 (44.8) | 50 (47.6) | 1.02 (0.63–1.66) | 1.02 (0.62–1.68) | |||
| Val/Val | 24 (11.3) | 7 (6.7) | 0.57 (0.23–1.41) | 0.56 (0.22–1.40) | |||
| Dominant model | 119 (56.1) | 57 (54.3) | 0.81 | 0.93 (0.58–1.49) | 0.93 (0.58–1.50) | ||
| Recessive model | 24 (11.3) | 7 (6.7) | 0.23 | 0.56 (0.23–1.34) | 0.55 (0.23–1.34) | ||
| Log-additive model | – | – | – | 0.86 (0.59–1.23) | 0.85 (0.59–1.24) | ||
| MSH3 rs26279 | 211 (100) | 105 (100) | |||||
| Thr/Thr | G: 0.35 | G: 0.33 | 93 (44.1) | 48 (45.7) | 0.89 | 1 (Reference)d | 1 (Reference)d |
| Thr/Ala | 90 (42.7) | 45 (42.9) | 0.97 (0.59–1.60) | 0.94 (0.57–1.56) | |||
| Ala/Ala | 28 (13.3) | 12 (11.4) | 0.83 (0.39–1.78) | 0.80 (0.37–1.72) | |||
| Dominant model | 118 (55.9) | 57 (54.3) | 0.81 | 0.94 (0.59–1.50) | 0.91 (0.56–1.46) | ||
| Recessive model | 28 (13.3) | 12 (11.4) | 0.72 | 0.84 (0.41–1.73) | 0.82 (0.40–1.70) | ||
| Log-additive model | – | – | – | 0.93 (0.66–1.31) | 0.91 (0.64–1.28) | ||
| MSH4 rs5745325 | 212 (100) | 106 (100) | |||||
| Ala/Ala | A: 0.33 | A: 0.27 | 97 (45.8) | 57 (53.8) | 0.38 | 1 (Reference)d | 1 (Reference)d |
| Ala/Thr | 91 (42.9) | 40 (37.7) | 0.75 (0.46–1.23) | 0.75 (0.45–1.23) | |||
| Thr/Thr | 24 (11.3) | 9 (8.5) | 0.64 (0.28–1.47) | 0.64 (0.28–1.48) | |||
| Dominant model | 115 (54.2) | 49 (46.2) | 0.19 | 0.73 (0.45–1.16) | 0.72 (0.45–1.16) | ||
| Recessive model | 24 (11.3) | 9 (8.5) | 0.56 | 0.73 (0.33–1.63) | 0.72 (0.32–1.63) | ||
| Log-additive model | – | – | – | 0.78 (0.54–1.11) | 0.78 (0.54–1.11) | ||
| PMS1 rs5742933 | 212 (100) | 104 (100) | |||||
| G/G | C: 0.18 | C: 0.17 | 144 (67.9) | 73 (70.2) | 0.90 | 1 (Reference)d | 1 (Reference)d |
| G/C | 58 (27.4) | 27 (26.0) | 0.92 (0.54–1.57) | 0.88 (0.51–1.51) | |||
| C/C | 10 (4.7) | 4 (3.8) | 0.79 (0.24–2.60) | 0.76 (0.23–2.60) | |||
| Dominant model | 68 (32.1) | 31 (29.8) | 0.70 | 0.90 (0.54–1.50) | 0.86 (0.51–1.45) | ||
| Recessive model | 10 (4.7) | 4 (3.8) | 1.00 | 0.81 (0.25–2.64) | 0.80 (0.24–2.67) | ||
| Log-additive model | – | – | – | 0.90 (0.59–1.38) | 0.88 (0.57–1.35) | ||
| MLH3 rs175080 | 212 (100) | 106 (100) | |||||
| Pro/Pro | A: 0.46 | A: 0.51 | 60 (28.3) | 22 (20.8) | 0.34 | 1 (Reference)d | 1 (Reference)d |
| Pro/Leu | 109 (51.4) | 59 (55.7) | 1.48 (0.83–2.64) | 1.50 (0.83–2.71) | |||
| Leu/Leu | 43 (20.3) | 25 (23.6) | 1.59 (0.79–3.17) | 1.60 (0.79–3.22) | |||
| Dominant model | 152 (71.7) | 84 (79.2) | 0.17 | 1.51 (0.86–2.63) | 1.53 (0.87–2.69) | ||
| Recessive model | 43 (20.3) | 25 (23.6) | 0.56 | 1.21 (0.69–2.12) | 1.21 (0.69–2.12) | ||
| Log-additive model | – | – | – | 1.26 (0.90–1.77) | 1.26 (0.89–1.78) | ||
| MSH6 rs1042821 | 210 (100) | 106 (100) | |||||
| Gly/Gly | T: 0.21 | T: 0.22 | 127 (60.5) | 68 (64.2) | 0.04c | 1 (Reference)d | 1 (Reference)d |
| Gly/Glu | 78 (37.1) | 30 (28.3) | 0.72 (0.43–1.20) | 0.73 (0.43–1.23) | |||
| Glu/Glu | 5 (2.4) | 8 (7.5) | 2.99 (0.94–9.49) | 3.42 (1.04–11.24)c | |||
| Dominant model | 83 (39.5) | 38 (35.8) | 0.54 | 0.86 (0.53–1.39) | 0.87 (0.54–1.43) | ||
| Recessive model | 5 (2.4) | 8 (7.5) | 0.04c | 3.35 (1.07–10.50)c | 3.84 (1.18–12.44)c | ||
| Log-additive model | – | – | – | 1.05 (0.70–1.57) | 1.08 (0.71–1.63) | ||
a
P-value for cases vs. control group determined by two-sided Fisher's exact test (whenever 2×2 contingency tables are possible) or χ2 test (remaining cases).
b
ORs were adjusted for gender (male and female), age (<30, 30–49, 50–69, ≥70 years) and smoking status (non-smoker and smoker).
c
Significant results (P<0.05) highlighted in bold.
d
The reference comparator for OR calculations. DTC, well-differentiated thyroid cancer; MAF, minor allele frequency; OR, odds ratio; CI, confidence interval.