Table 1.

Summary of genetic variations associated with thyroid cancer susceptibility and clinico-histopathological traits.

Gene	Category	SNP	Main Results	Reference
RET	Protein-coding	S836S	Overexpressed in patients with PTC	[23]
		G691S	Identified in tumors > 10 mm
		S904S
		rs17028, rs1799939, rs1800858, rs1800860, rs2075912, rs2565200, rs2742240	Haplotype CAAGCGT: increased risk for distant metastases rs1799939 AG/AG plus AA genotypes: increased risk for DTC without concomitant thyroid benign disorders	[24]
		rs1799939	Increased thyroid cancer susceptibility	[25]
BAX	Protein-coding	−248 G > A	Significant genotypic difference between PTC and healthy subjects Association with PTC G allele: protective factor for PTC	[32]
TSH-β	Protein-coding	rs201857310	Strongly associated with thyroid cancer	[74]
VDR	Protein-coding	rs2228570	CT/TT/Ff genotype: increased PTC susceptibility TT/Ff genotype: tumor diameter T3 and T4, stage III/IV, and extra-thyroidal invasion T allele: increased risk of tumor-node-metastasis, greater tumor diameter, multifocality, and extra-thyroidal invasion	[51,52]
SPARC	Protein-coding	rs1054204, rs3210714, rs3549	Reduced PTC risk	[56]
SPP1	Protein-coding	rs4754	Increased PTC risk	[56]
XRCC1	Protein-coding	Arg194Trp	Increased thyroid cancer risk	[43]
			C allele: decreased thyroid cancer risk	[44]
NRG1	Protein-coding	rs2439302	Role in PTC predisposition G allele: high expression of multiple NRG1 isoforms in unaffected thyroid tissue	[62]
			Increased thyroid cancer risk	[63,64,65]
HOTAIR	Non-coding	rs1899663	No association with clinicopathological traits of thyroid cancer	[40]
			No association with increased thyroid cancer risk	[41]
		rs7958904, rs4759314, rs874945	No association with increased thyroid cancer risk	[41]
		rs12826786, rs920778	Increased thyroid cancer risk	[41]
TP53	Protein-coding	rs1042522	CC genotype: protection against PTC Associated with tumors > 10 mm and with vascular invasion	[37]
p21	Protein-coding	rs10559234, rs1801270	No association with increased thyroid cancer risk	[37]
FOXE1	Protein-coding	rs965513	Increased susceptibility for DTC	[67,68]
		rs944289, rs1867277		[68,69]
IL-10	Protein-coding	G-1082A	G allele: more frequent in PTC patients compared to controls GG genotype: increased risk of developing thyroid cancer compared to AA genotype	[84]
IL1R1	Protein-coding	rs3917225	Increased susceptibility for thyroid cancer	[90]
IL1R2	Protein-coding	rs2072472, rs11674595	Increased susceptibility for thyroid cancer	[90]
IL1A	Protein-coding	rs3783521, rs3783546, rs3783550, rs1609682	Increased susceptibility for thyroid cancer	[91]
IL1B	Protein-coding	rs3136558, rs1143623	Increased susceptibility for thyroid cancer	[91]
MET	Protein-coding	rs1621	AG genotype: increased risk for PTC Not associated with clinicopathological traits of thyroid cancer	[28]
NOS3	Protein-coding	Intron4	BB genotype: protective factor for PTC A allele: risk factor for PTC	[94]
MTHFR	Protein-coding	677C > T	Increased risk for thyroid cancer	[75]
MTR	Protein-coding	2756A > G	Associated with histopathological traits such as tumor extent and aggressive behavior	[75]
RFC1	Protein-coding	80A > G	Increased risk for thyroid cancer	[75]
MMP-9	Protein-coding	−1562C/T	CT or CT + TT genotype: increased risk for PTC	[61]
MIR149	Non-coding	rs2292832	Mutation T > C was strongly associated with thyroid cancer	[98]
MIR34B	Non-coding	rs4938723	Increased risk for thyroid cancer	[99]
ANRIL	Non-coding	rs11333048, rs4977574, rs4977574, rs1333040, rs10757274	AAAC haplotype: protective effect from PTC CAAC, CAGT haplotypes: increased thyroid cancer risk rs1333048 CC variant: frequently in tumors > 1 cm s4977574 AC variant: frequently in smaller tumor sizes rs10757274, rs1333040: low risk of advanced disease	[95]
MALAT1	Non-coding	rs619586	Protective factor for PTC	[113]
POLR2E	Protein-coding	rs3787916	Increased risk for thyroid cancer	[112]
TINCR	Protein-coding	rs8101923	G allele: high risk for PTC	[114]

Abbreviations: RET, Rearranged during Transfection; BAX, B-cell lymphoma 2-associated X protein; TSH-β, thyroid-stimulating hormone beta subunit; VDR, vitamin D receptor; SPARC, secreted protein acidic and rich in cysteine; SPP1, secreted phosphoprotein 1; XRCC1, X-ray repair cross-complementing group 1; NRG1, neuregulin 1; HOTAIR, HOX Transcript Antisense RNA; TP53, tumor protein 53; FOXE1, Forkhead factor E1; IL-10, interleukin-10; IL1R1, interleukin-1 receptor type 1; IL1R2, interleukin-1 receptor type 2; IL1A, interleukin-1 alpha; IL1B, interleukin-1 beta; MET, mesenchymal-epithelial transition factor; NOS3, nitric oxide synthase 3; MTHFR, methylenetetrahydrofolate reductase; MTR, methionine synthase; RFC-1, reduced folate carrier 1; MMP-9, Matrix metalloproteinase-9; MIR149, miRNA-149; MIR34B, miRNA-34b; ANRIL, CDKN2B antisense RNA 1; MALAT1, Metastasis Associated Lung Adenocarcinoma Transcript 1; POLR2E, RNA polymerase II, I and III subunit E; TINCR, terminal differentiation-induced noncoding RNA; PTC, papillary thyroid cancer; DTC, differentiated thyroid cancer.