| 研究実績の概要 |
The association of five single-nucleotide polymorphisms (SNPs): rs966513 (9q22.33, FOXE1), rs944289 (14q13.3, PTCSC3), rs2439302 (8p12, NRG1), rs1867277 (9q22.23, FOXE1) and rs6983267 (8q24, POU5F1B), which have been previously reported to confer risk for thyroid cancer, with a benign tumor of the thyroid, the follicular adenoma (FA) was accomplished, in 959 cases of histologically verified FA, 535 papillary thyroid carcinomas (PTC), and 2766 population controls from Japan.
A significant association was found between FA and rs944289 (p=0.002; OR=1.176), and suggestively with rs2439302 (p=0.033; OR=1.149). In PTC, significant associations were confirmed for rs965513 (p=4.21E-04; OR=1.587) and rs944289 (p=0.003; OR=1.234), newly found in the Japanese population for rs2439302 (p=0.003; OR=1.266) and rs1867277 (p=1.17E-04; OR=1.492), and was not replicated for rs6983267 (p=0.082). A significant correlation between rs2439302 genotype and relative expression of NRG1 was detected in normal and tumor counterparts of PTC indicating about a 10% decrease per each risk allele. NRG1 expression also significantly correlated with that of PTCSC3. The results are published (Rogounovitch et al., Thyroid, 2015).
The association of rs944289, which was previously known to confer risk for thyroid cancer, with FA, and the correlation between PTCSC3 and NRG1 expression demonstrates that predisposing genetic factors are partly common for benign and malignant thyroid tumors, and imply broader roles of the pathways they underlie in thyroid tumorigenesis, not limited to carcinogenesis.
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