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目的探讨肽基脯氨酰顺反异构酶(Pin1)启动子区域的单核苷酸多态性(SNP)位点rs2233678、rs2233679与喉鳞状细胞癌(LSCC)的相关性。方法采用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)方法检测95例LSCC患者(病例组)及100例喉良性病变患者(对照组)外周血Pin1基因相关的SNP位点的差异;比较突变位点的基因型频率及等位基因型频率与患者颈淋巴结转移、临床分期的关系。结果 rs2233678多态性位点的基因型频率在病例组外周血中表达高于对照组(P<0.05),其基因型频率分布与淋巴结转移、TNM临床分期分组无关。rs2233679多态性位点的基因型频率分布在病例组和对照组中差异无统计学意义(P>0.05)。结论 rs2233678多态性位点与LSCC易感性有关。rs2233679多态性位点与LSCC易感性无关。
Objective To investigate the association between the single nucleotide polymorphisms (SNPs) rs2233678, rs2233679 and laryngeal squamous cell carcinoma (LSCC) in the promoter region of peptidyl prolyl cis-trans isomerase (Pin1). Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect Pin1 gene in peripheral blood of 95 patients with LSCC (case group) and 100 patients with benign throat disease (control group) SNP loci; comparison of genotype frequency and allele frequency of mutation sites with cervical lymph node metastasis, clinical stage. Results The genotype frequency of rs2233678 polymorphism locus in the peripheral blood of case group was higher than that of the control group (P <0.05). The frequency distribution of rs2233678 genotype was not associated with lymph node metastasis and TNM clinical stage. The rs2233679 polymorphism loci genotype frequency distribution in the case group and the control group, the difference was not statistically significant (P> 0.05). Conclusion rs2233678 polymorphism is associated with the susceptibility to LSCC. The rs2233679 polymorphism site is not associated with LSCC susceptibility.