ESR1基因单核苷酸多态性与甲状腺乳头状癌临床易感的相关性研究

目的探讨四川南充地区汉族人群中ESR1基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与甲状腺乳头癌(papillary thyroid carcinoma,PTC)临床易感的关系。方法选取170例甲状腺乳头状癌患者与150例汉族正常人群。以ESR1基因rs538463552、rs722207、rs722209、rs754078608、rs11155816、rs535364517位点作为遗传标记,用基因测序法检测ESR1基因单核苷酸多态性。结果 ESR1基因rs538463552、rs754078608、rs11155816、rs535364517在甲状腺乳头状癌组及正常人群组均未检测出突变。与正常人群组的比较,甲状腺乳头状癌组rs722207、rs722209等位基因及基因分型频率组间分布差异无统计学意义(P>0.05)。结论 ESR1基因rs538463552、rs722207、rs722209、rs754078608、rs11155816、rs535364517位与南充地区汉族人群中甲状腺乳头状癌的临床易感性不具有明显相关性。

Association between single nucleotide polymorphism of ESR1 gene and clinical susceptibility of papillary thyroid carcinoma

Objective To investigate the relationship between single nucleotide polymorphism( single nucleotide polymorphisms,SNP) of ESR1 gene and clinical susceptibility of papillary thyroid carcinoma( papillary thyroid,carcinoma,PTC) in Sichuan Han population in Nanchong.Methods 170 cases of papillary thyroid carcinoma and 150 normal subjects of Han nationality were selected.ESR1 gene rs538463552,rs722207,ESR1,rs722209,rs754078608,rs11155816 and rs535364517 loci were used as genetic markers,and single nucleotide polymorphism of the gene was detected by gene sequencing.Results No mutation of ESR1 gene rs538463552,rs754078608,rs11155816,and rs535364517 were detected in the papillary thyroid carcinoma group and the normal population group.Compared with the normal population,there was no significant difference between the allele frequencies and genotype frequencies of rs722207,rs722209 in the papillary thyroid carcinoma group( P > 0. 05). Conclusion The ESR1 gene,rs538463552,rs722207,rs722209,rs754078608,rs11155816,and rs535364517 sites are not significantly correlated with the clinical susceptibility of papillary thyroid carcinoma