Table 1. RET genotype, allele and haplotype frequencies in patients and controls.
Controls | All patients | PTC | FTC | |||||
Polymorphism | total = 543 | total = 545 | OR (95% CI) | total = 474 | OR (95% CI) | total = 67 | OR (95% CI) | |
n (%) | n (%) | n (%) | n (%) | |||||
G691S genotype | GG | 355 (65.4) | 340 (62.4) | 0.88 (0.69–1.13) | 295 (62.2) | 0.87 (0.68–1.13) | 42 (62.7) | 0.89 (0.53–1.51) |
GA | 169 (31.1) | 183 (33.6) | 1.12 (0.87–1.44) | 161 (34.0) | 1.14 (0.88–1.48) | 21 (31.3) | 1.01 (0.58–1.75) | |
AA | 19 (3.5) | 22 (4.0) | 1.16 (0.62–2.17) | 18 (3.8) | 1.09 (0.56–2.10) | 4 (6.0) | 1.75 (0.58–5.31) | |
G691S allele | G | 879 (80.9) | 863 (79.2) | 0.90 (0.73–1.11) | 751 (79.2) | 0.90 (0.72–1.12) | 105 (78.4) | 0.85 (0.55–1.32) |
A | 207 (19.1) | 227 (20.8) | 1.12 (0.90–1.38) | 197 (20.8) | 1.11 (0.90–1.39) | 29 (21.6) | 1.17 (0.76–1.82) | |
L769L genotype | TT | 331 (61.0) | 330 (60.6) | 0.98 (0.77–1.25) | 295 (62.2) | 1.06 (0.82–1.36) | 34 (50.7) | 0.66 (0.40–1.10) |
TG | 192(35.4) | 187 (34.3) | 0.95 (0.74–1.23) | 154 (32.5) | 0.88 (0.68–1.14) | 30 (44.8) | 1.48 (0.89–2.48) | |
GG | 20 (3.7) | 28 (5.1) | 1.42 (0.79–2.55) | 25 (5.3) | 1.46 (0.80–2.66) | 3 (4.5) | 1.23 (0.35–4.24) | |
L769L allele | T | 854 (78.6) | 847 (77.7) | 0.95 (0.77–1.16) | 744 (78.5) | 0.99 (0.80–1.23) | 98 (73.1) | 0.74 (0.49–1.11) |
G | 232 (21.4) | 243 (22.3) | 1.06 (0.86–1.29) | 204 (21.5) | 1.01 (0.82–1.25) | 36 (26.9) | 1.35 (0.90–2.03) | |
S836S genotype | CC | 500 (92.1) | 480 (88.1) | 0.64 (0.42–0.95) | 416 (87.8) | 0.62 (0.41–0.93) | 60 (89.6) | 0.74 (0.32–1.71) |
CT | 42 (7.7) | 64 (11.7) | 1.59 (1.05–2.39) (b) | 57 (12.0) | 1.63 (1.07–2.48) (c) | 7 (10.4) | 1.39 (0.60–3.24) | |
TT | 1 (0.2) | 1 (0.2) | 1.00 (0.06–15.97) | 1 (0.2) | 1.15 (0.07–18.37) | 0 (0.0) | – | |
S836S allele | C | 1042 (95.9) | 1024 (93.9) | 0.66 (0.44–0.97) | 889 (93.8) | 0.64 (0.43–0.95) | 127 (94.8) | 0.77 (0.34–1.74) |
T | 44 (4.1) | 66 (6.1) | 1.53 (1.03–2.26) (d) | 59 (6.2) | 1.57 (1.05–2.35) (e) | 7 (5.2) | 1.31 (0.58–2.96) | |
S904S genotype | CC | 354 (65.2) | 339 (62.2) | 0.88 (0.69–1.13) | 294 (62.0) | 0.87 (0.68–1.13) | 42 (62.7) | 0.90 (0.53–1.52) |
CG | 170 (31.3) | 184 (33.8) | 1.12 (0.87–1.44) | 162 (34.2) | 1.14 (0.88–1.48) | 21 (31.3) | 1.00 (0.58–1.73) | |
GG | 19 (3.5) | 22 (4.0) | 1.16 (0.62–2.17) | 18 (3.8) | 1.09 (0.56–2.10) | 4 (6.0) | 1.75 (0.58–5.31) | |
S904S allele | C | 878 (80.8) | 862 (79.1) | 0.90 (0.73–1.11) | 750 (79.1) | 0.90 (0.72–1.12) | 105 (78.4) | 0.86 (0.55–1.33) |
G | 208 (19.2) | 228 (20.9) | 1.12 (0.90–1.38) | 198 (20.9) | 1.11 (0.90–1.39) | 29 (21.6) | 1.17 (0.75–1.81) | |
Haplotype (a) | total = 1086 | total = 1090 | total = 948 | total = 134 | ||||
n (%) | n (%) | n (%) | n (%) | |||||
G/T/C/C | 642 (59.1) | 611 (56.1) | 0.88 (0.74–1.05) | 538 (56.8) | 0.91 (0.76–1.08) | 71 (53.0) | 0.78 (0.54–1.12) | |
A/T/C/G | 205 (18.9) | 227 (20.8) | 1.13 (0.92–1.40) | 197 (20.8) | 1.13 (0.91–1.40) | 27 (20.2) | 1.08 (0.69–1.70) | |
G/G/C/C | 192 (17.7) | 185 (17.0) | 0.95 (0.76–1.19) | 153 (16.1) | 0.90 (0.71–1.13) | 29 (21.6) | 1.29 (0.83–2.00) | |
G/G/T/C | 38 (3.5) | 58 (5.3) | 1.55 (1.02–2.35) (f) | 51 (5.4) | 1.57 (1.02–2.41) (g) | 5 (3.7) | 1.07 (0.41–2.76) |
PTC, papillary thyroid carcinoma; FTC, follicular thyroid carcinoma; n, number; %, percentage; OR, odds ratio; CI, confidence interval; (a), G691S/L769L/S836S/S904S (only haplotypes with frequencies >1% are presented); (b), p = 0.026 (overdominant inheritance model); (c), p = 0.021 (overdominant inheritance model); (d), p = 0.033 (additive inheritance model); (e), p = 0.026 (additive inheritance model); (f), p = 0.039; (g), p = 0.039.