RET基因多态性与甲状腺乳头状癌的关联性分析

Association analysis between RET gene polymorphism and papillary thyroid carcinoma

目的:探讨RET基因第11外显子上rs1799939位点基因多态性与甲状腺乳头状癌(PTC)的关系,为PTC的遗传学机制研究提供理论依据。方法:采用病例-对照研究方法,选取100例PTC患者作为病例组,选取与病例组患者年龄、性别匹配的100例健康人作为对照组,采用PCR-RELP方法检测病例组和对照组的基因型,应用SPSS 13.0统计软件分析该单核苷酸多态性(SNPs)位点与甲状腺癌的关联性。结果:病例组和对照组在rs1799939位点上的基因型频数分布均符合Hardy-Weinberg平衡定律(P>0.05);病例组和对照组rs1799939位点的基因型和等位基因频数分布差异无统计学意义(P>0.05);不同性别的甲状腺乳头状癌患者在该位点的基因型和等位基因频数分布差异亦无统计学意义(P>0.05)。结论:RET基因rs1799939位点的基因多态性可能与PTC的发生无关联。

Objective To investigate the association between the gene polymorphisms of rs1799939 site of RET exon 11 and papillary thyroid carcinoma（PTC）,and to provide theoretical basis for genetic mechanism of PTC.Methods A case-control study was used in this research.100 cases of PTC were selected as case group,100 healthy people matched in age and sex were selected as control group.PCR-RELP analysis was employed to detect the genotypes of the two groups,statistical analysis software SPSS 13.0 was used to analyze the association between the gene polymorphisms of rs1799939 site and PTC.Results The distribution of genotypic frequency of rs1799939 site didn＇t deviate from Hardy-Weinberg equilibrium in both case group and control group（P0.05）.The distribution of genotypic and allelic frequencies at rs1799939 site showed no statistical significance between case group and control group（P0.05）.The distribution of genotypic and allelic frequencies between different genders in case group showed no statistical significance either（P0.05）.Conclusion The polymorphism of rs1799939 site in the RET gene may be not associated with the occurrence of PTC.