第10号染色体缺失的磷酸酶张力蛋白同源物基因多态性与脑膜瘤易感性关联研究  

Association of phosphatase and tensin homolog deleted on chromosome 10 gene polymorphisms with susceptibility to meningioma

作　　者：黄冠又 郝淑煜[2] 冯洁[3] 王亮[2] 张力伟[2] 张俊廷[2] 吴震[2] HUANG Guan-You;HAO Shu-Yu;FENG Jie;WANG Liang;ZHANG Li-Wei;ZHANG Jun-Ting;WU Zhen(Department of Neurosurgery,The Second People’s Hospital of Guiyang,Guiyang,Guizhou 550081,China;Department of Neurosurgery,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China;The Beijing Neurosurgery Institution,Capital Medical University,Beijing 100070,China)

机构地区：[1]贵阳市第二人民医院神经外科,贵州贵阳550081 [2]首都医科大学附属北京天坛医院,北京100070 [3]首都医科大学北京市神经外科研究所,北京100070

出　　处：《国际神经病学神经外科学杂志》2022年第4期42-46,共5页Journal of International Neurology and Neurosurgery

基　　金：国家自然科学基金(81802683,81872052);贵州省卫健委科学技术基金(gzwkj2022-348)。

摘　　要：目的研究中国人群中第10号染色体缺失的磷酸酶张力蛋白同源物基因(PTEN)单核苷酸多态性与脑膜瘤发病风险的关系。方法选取2017年10月—2018年1月在北京天坛医院神经外科手术治疗的200例脑膜瘤患者为研究对象,应用SNaPshot基因分型技术对PTEN基因多态位点rs2735343、rs701848和rs1234214检测,分析PTEN基因多态性与脑膜瘤的易感性。结果PTEN基因多态位点rs2735343、rs701848和rs1234214基因频率在脑膜瘤组和对照组基因型和等位基因频率分布无差异(P>0.05)。单体型分析结果显示CTC单体型频率在脑膜瘤组和对照组之间差异有统计学意义(P<0.05),CTC单体型携带者发生脑膜瘤的风险增加(OR=1.366,95%CI=1.034~1.805,P=0.028)。结论PTEN基因多态性可能与脑膜瘤发病无关联,但PTEN基因rs2735343、rs701848和rs1234214构成的CTC单体型可能是中国人群脑膜瘤发病的危险因素。Objective To investigate the association of the single nucleotide polymorphisms of the phosphatase and tensin homolog deleted on chromosome 10(PTEN)gene with the susceptibility to meningioma in the Chinese population.Methods A total of 200 patients with meningioma who underwent neurosurgery in Beijing Tiantan Hospital from October 2017 to January 2018 were enrolled as subjects.The SNaPshot genotyping technique was to detect PTEN gene polymorphisms at rs2735343,rs701848,and rs1234214 loci,and the association of PTEN gene polymorphisms with the susceptibility to meningioma was analyzed.Results There were no significant differences in the genotype and allele frequencies of the rs2735343,rs701848,and rs1234214 loci of the PTEN gene between the meningioma group and the control group(P>0.05).Haplotype analysis showed that there was a significant difference in the frequency of haplotype CTC between the meningioma group and the control group(P<0.05),and carriers of haplotype CTC had an increased risk of meningioma(odds ratio=1.366,95%confidence interval:1.034-1.805,P=0.028).Conclusions PTEN gene polymorphisms may not be associated with the susceptibility to meningioma;however,the haplotype CTC comprised of rs2735343,rs701848,and rs1234214 may be a risk factor for meningioma in the Chinese population.

关 键 词：第10号染色体缺失的磷酸酶张力蛋白同源物基因 脑膜瘤 基因多态性 遗传易感性 单体型 连锁不平衡 

分 类 号：R739.41[医药卫生—肿瘤]