Department of Internal Medicine, Zahedan University of Medical Sciences , Zahedan, Iran.
Department of Laboratory Sciences, Zahedan University of Medical Sciences , Zahedan, Iran.
Br J Biomed Sci. 2020 Jul;77(3):129-134. doi: 10.1080/09674845.2020.1741249. Epub 2020 May 13.
Papillary thyroid carcinoma (PTC) is the most frequent form of thyroid cancer whose incidence has increased in recent years. Dysregulated apoptosis is known in the pathogenesis of various cancers. Caspase-3 is an important apoptotic component and its abnormal function may play a key role in cancer pathogenesis. We tested the hypothesis of a link between CASP3 single nucleotide polymorphisms rs4647610 and rs4647602 on PTC and its clinical outcomes.
A total of 134 PTC patients and 151 healthy controls were genotyped for CASP3 rs4647610 and rs4647602 single nucleotide polymorphisms (SNPs) using PCR-RFLP method.
Allele and genotype frequencies of both SNPs were not different between cases and controls. The combined genotypes and haplotypes were not linked to PTC. However, the frequencies of rs4647610 GA and AA genotypes were higher in PTC patients with larger tumour size (≥1 cm), and the rs4647610 SNP was associated with increased tumour size in the dominant model (OR 3.4 [95% CI, 1.1-11], = 0.04). The rs4647602CA and AA genotypes were higher in PTC patients with lower TNM stage (I-II) compared to higher stages (III-IV). No association was observed between CASP3 polymorphisms and other PTC outcomes.
Although CASP3 rs4647610 and rs4647602 SNPs are not associated with PTC, rs4647610 is linked to larger tumour size, and rs4647602 to lower stage of cancer.
甲状腺癌是最常见的甲状腺恶性肿瘤，近年来其发病率有所增加。细胞凋亡失调在各种癌症的发病机制中已有报道。半胱氨酸天冬氨酸蛋白酶-3（caspase-3）是细胞凋亡的重要组成部分，其功能异常可能在癌症的发病机制中起关键作用。我们检验了 CASP3 单核苷酸多态性 rs4647610 和 rs4647602 与甲状腺癌及其临床结局之间存在关联的假说。
采用 PCR-RFLP 方法，对 134 例甲状腺癌患者和 151 例健康对照者的 CASP3 rs4647610 和 rs4647602 单核苷酸多态性（SNP）进行基因分型。
病例组和对照组之间，两种 SNP 的等位基因和基因型频率均无差异。联合基因型和单体型与甲状腺癌无关。然而，rs4647610 基因型 GA 和 AA 在肿瘤较大（≥1 cm）的甲状腺癌患者中更为常见，rs4647610 显性模型与肿瘤增大相关（比值比 3.4[95%置信区间，1.1-11]， = 0.04）。rs4647602 基因型 CA 和 AA 在肿瘤分期较低（I-II 期）的甲状腺癌患者中更为常见，而在肿瘤分期较高（III-IV 期）的患者中则少见。未观察到 CASP3 多态性与其他甲状腺癌结局之间存在相关性。
尽管 CASP3 rs4647610 和 rs4647602SNP 与甲状腺癌无关，但 rs4647610 与肿瘤较大有关，rs4647602 与癌症分期较低有关。
