甲状腺球蛋白基因多态性对甲状腺非髓样癌易感性的影响

Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene

背景与目的:甲状腺球蛋白(thyroglobulin,Tg)和促甲状腺激素受体(thyroid stimulating hormone receptor,TSHR)的种系变异促使良性甲状腺疾病的发病危险性增加。良性甲状腺疾病是甲状腺非髓样癌(non-medullary thyroid cancer,NMTC)的高危因素。有研究发现Tg基因和TSHR基因与人甲状腺增生和甲状腺肿瘤有关,基于此原因,本文旨在探讨这些基因多态性与NMTC危险性的相关性。方法:本院于2004年6月-2008年6月期间共收集176例NMTC患者,同时收集本院健康查体中心筛选的184例健康人作为对照组。采用PCR-RFLP方法检测Tg A7589G及TSHR C253A多态性,分析NMTC组与对照组的Tg和TSHR多态性等位基因频率与NMTC危险性的关系。结果:NMTC组与对照组TSHR C253A基因型与等位基因的频率分布相比,差异无统计学意义(P>0.05)。Tg A7589G在人群中分布存在差异,NMTC组AG+GG基因型与对照组相比,差异具有统计学意义(χ2=4.333,P=0.037)。NMTC组G等位基因频率明显高于对照组(χ2=6.891,P=0.009)。结论:甲状腺球蛋白基因A7589G在NMTC组和对照组存在多态性,G等位基因可能为中国北方甲状腺非髓样癌发病的易感基因。

Background and purpose：Germline variation in Tg （thyroglobulin） and TSHR （thyroid stimulating hormone receptor） confers an increased risk of benign thyroid disorders. Benign thyroid disorders are strong risk factors for non-medullary thyroid cancer （NMTC）. To explore the hypothesis that polymorphic variation in these genes affects the risk of NMTC. Methods：Tg A7589G and TSHR C253A polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method, to analyze the relationship between the Tg and TSHR gene polymorphisms and NMTC in NMTC and control groups. Results：Among 360 cases, there was no statistic difference in the frequencies of genotype and allele of TSHR C253A between NMTC and control groups. There were Tg A7589G polymorphisms in the 360 cases. The frequencies of AG＋GG genotype in NMTC group were significantly higher than those in control groups （P〈0.05）. The frequencies of G allele in NMTC group were significantly higher than those in control groups （P〈0.001）. Conclusion：There were Tg A7589G gene polymorphisms in NMTC and control groups. G allele may be the predisposing gene of NMTC.