背景:甲状腺乳头状癌(PTC)是最常见的甲状腺癌类型,其确切病因尚不清楚。然而,环境和遗传因素有助于PTC的病因。轴抑制蛋白1(Axin1)是一种支架蛋白,发挥其作为肿瘤抑制因子的作用。此外,组织蛋白酶B(Ctsb)是一种半胱氨酸蛋白酶,在几种类型的肿瘤中具有较高的表达。因此,这项研究的目的是调查AXIN1rs12921862C/A和rs1805105G/A和CTSBrs12898G/A多态性与PTC易感性的可能关联。
方法:总共,156名PTC患者和158名性别-,年龄-,和BMI匹配的对照受试者被纳入研究。使用PCR-RFLP方法对AXIN1rs12921862C/A和rs1805105G/A和CTSBrs12898G/A多态性进行基因分型。
结果:在除优势模型外的所有遗传模型中,AXIN1rs12921862C/A多态性与PTC风险增加之间存在关系。AXIN1rs1805105G/A多态性仅在共显性和超显性模型中与PTC风险增加相关。在PTC组中,AXIN1Ars12921862Ars1805105单倍型的频率更高,并且该单倍型也与PTC的风险增加相关。此外,AXIN1rs12921862C/A多态性与PTC临床和病理结果无关,但AXIN1rs1805105G/A多态性与几乎3倍的较大肿瘤大小(≥1cm)相关。CTSBrs12898G/A多态性与PTC及其发现之间没有关联。
结论:AXIN1rs12921862C/A和rs1805105G/A多态性与PTC相关。AXIN1rs1805105G/A多态性与较高的肿瘤大小有关。
BACKGROUND: Papillary thyroid cancer (PTC) is the most common type of thyroid cancer which its precise etiology remains unknown. However, environmental and genetic factors contribute to the etiology of PTC. Axis inhibition protein 1 (Axin1) is a scaffold protein that exerts its role as a tumor suppressor. In addition, Cathepsin B (Ctsb) is a cysteine protease with higher expression in several types of tumors. Therefore, the aim of this study was to investigate the possible association of AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms with PTC susceptibility.
METHODS: In total, 156 PTC patients and 158 sex-, age-, and BMI-matched control subjects were enrolled in the study. AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms were genotyped using the PCR-RFLP method.
RESULTS: There was a relationship between AXIN1 rs12921862 C/A polymorphism and an increased risk of PTC in all genetic models except the overdominant model. The AXIN1 rs1805105 G/A polymorphism was associated with an increased PTC risk only in codominant and overdominant models. The frequency of AXIN1 Ars12921862 Ars1805105 haplotype was higher in the PTC group and also this haplotype was associated with an increased risk of PTC. Moreover, the AXIN1 rs12921862 C/A polymorphism was not associated with PTC clinical and pathological findings, but AXIN1 rs1805105 G/A polymorphism was associated with almost three folds of larger tumor size (≥1 cm). There was no association between CTSB rs12898 G/A polymorphism and PTC and its findings.
CONCLUSIONS: The AXIN1 rs12921862 C/A and rs1805105 G/A polymorphisms were associated with PTC. AXIN1 rs1805105 G/A polymorphism was associated with higher tumor size.