Table 1. Association with risk of follicular cell-derived thyroid cancer for 9 candidate variants in the discovery and replication stages.
SNP (alleles)a | Gene | Location, function | Group of cases | Best fitting model | Discoveryd | Replicatione | ||||
MAF in cont; cases | OR (95% CI)b | P c | MAF in cont; cases | OR (95% CI)b | P c | |||||
rs16973034 (A/G) | PRKAR1A | intronic, tagSNP | PTC | dominant | 0.153; 0.108 | 0.63 (0.47–0.84) | 1.8×10−3 | 0.138; 0.133 | 1.00 (0.79–1.26) | 0.984 |
rs2703488 (T/C) | KIT | intronic, tagSNP | PTC | dominant | 0.488; 0.551 | 1.43 (1.07–1.91) | 1.5×10−2 | 0.476; 0.472 | 0.93 (0.75–1.16) | 0.522 |
rs4939827 (T/C) | SMAD7 | intronic, tagSNP | PTC | recessive | 0.461; 0.416 | 0.68 (0.50–0.94) | 1.9×10−2 | 0.438; 0.478 | 1.32 (1.03–1.68) | 0.027 |
rs2066807 (G/C) | STAT2 | exonic, p.Met594Ile | PTC | dominant | 0.033; 0.054 | 1.69 (1.06–2.69) | 2.6×10−2 | 0.040; 0.039 | 0.98 (0.68–1.42) | 0.928 |
rs2284734 (A/G) | TSHR | intronic, tagSNP | cPTC | recessive | 0.290; 0.388 | 2.64 (1.69–4.13) | 1.8×10−5 | 0.304; 0.317 | 1.42 (0.99–2.03) | 0.058 |
rs1053266 (G/T) | CCDC6 | exonic, p.Pro470Thr | cPTC | recessive | 0.494; 0.543 | 1.37 (0.96–1.97) | 8.7×10−2 | 0.471; 0.502 | 1.24 (0.96–1.60) | 0.103 |
rs2687834 (G/T) | TG | intronic, tagSNP | fvPTC | recessive | 0.447; 0.565 | 2.28 (1.50–3.46) | 1.1×10−4 | 0.491; 0.477 | 0.74 (0.46–1.17) | 0.195 |
rs6179 (G/A) | GHR | exonic, ESE | FTC | dominant | 0.356; 0.232 | 0.46 (0.27–0.80) | 5.4×10−3 | 0.299; 0.286 | 0.87 (0.55–1.37) | 0.543 |
rs13099828 (C/G) | PPARG | intronic, tagSNP | fvPTC+FTC | dominant | 0.186; 0.256 | 1.71 (1.22–2.38) | 1.6×10−3 | 0.168; 0.189 | 1.01 (0.71–1.46) | 0.936 |
Abbreviations: MAF = minor allele frequency; OR = odds ratio; CI = confidence interval; ESE = Exonic Splicing Enhancers; PTC = Papillary Thyroid Carcinoma; cPTC = classic PTC; fvPTC = follicular variant of PTC; FTC = Follicular Thyroid Carcinoma. The table is sorted by disease subtype and, within each group, by P-value.
Major/minor allele (in controls);
OR and CI were obtained using homozygotes for the most frequent allele in controls as the reference group;
P-values are derived from Wald statistics;
Results adjusted for age and gender;
Results adjusted for age, gender and country.