Mutagenesis Group, Genetics Unit, Department of Genetics and Microbiology, Edifici Cn, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Thyroid. 2011 May;21(5):519-25. doi: 10.1089/thy.2010.0384. Epub 2011 Apr 10.
Genetic factors are important in thyroid cancer susceptibility. Recently, it has been reported that there are associations of certain chromosome regions with thyroid cancer. In this case-control study, we sought to determine whether there is an association between differentiated thyroid cancer (DTC) and variants in regions of chromosome 8q.
We used a case-control association design in a population of 877 individuals (398 patients with sporadic DTC and 479 healthy controls). The iPLEX technology was applied to analyze seven single-nucleotide polymorphisms (SNPs) in chromosome 8q: two SNPs that map at 8q24, previously reported as risk markers in different types of cancer, two SNPs in the thyrotropin-releasing hormone receptor gene (TRHR), and three SNPs in the thyroglobulin gene (TG). Risk assessment was done by unconditional regression analysis.
The two SNPs that map at 8q24, rs6983267 and rs1447295, and the two TRHR polymorphisms showed no association with DTC. No association was also found for the exon 33 TG polymorphism. The two TG polymorphisms in the exon 10-12 cluster, however, were associated with an increased risk of DTC (dominant model odds ratio = 1.80, 95% confidence interval = 1.30-2.50, p < 0.001).
In this study, we show for the first time that the TG gene is a susceptibility factor for thyroid cancer. Although these conclusions are based on a large population, additional studies are warranted to support these data.
遗传因素在甲状腺癌易感性中起重要作用。最近，有报道称某些染色体区域与甲状腺癌有关。在这项病例对照研究中，我们试图确定分化型甲状腺癌（DTC）与 8 号染色体区域的变异之间是否存在关联。
我们在 877 名个体（398 名患有散发性 DTC 的患者和 479 名健康对照者）中采用病例对照关联设计。应用 iPLEX 技术分析 8 号染色体上的 7 个单核苷酸多态性（SNP）：两个位于 8q24 的 SNP，先前报道为不同类型癌症的风险标志物，两个位于促甲状腺激素释放激素受体基因（TRHR）的 SNP，以及三个位于甲状腺球蛋白基因（TG）的 SNP。通过无条件回归分析进行风险评估。
位于 8q24 的两个 SNP（rs6983267 和 rs1447295）和两个 TRHR 多态性与 DTC 无关。TG 基因外显子 33 的多态性也与 DTC 无关。然而，外显子 10-12 簇中的两个 TG 多态性与 DTC 的风险增加相关（显性模型优势比=1.80，95%置信区间=1.30-2.50，p<0.001）。
在这项研究中，我们首次表明 TG 基因是甲状腺癌的易感因素。尽管这些结论是基于大样本人群得出的，但仍需要进一步的研究来支持这些数据。
