AKT1基因多态性与中国人群脑膜瘤易感性关系  

Association of AKT1 gene polymorphisms with susceptibility to meningioma in Chinese population

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 Guanyou;HAO Shuyu;FENG Jie;WANG Liang;ZHANG Liwei;ZHANG Junting;WU Zhen(不详;Department of Neurosurgery,the Second People′s Hospital of Guiyang,Guiyang 550081,China)

机构地区：[1]贵阳市第二人民医院神经外科,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：《实用医学杂志》2022年第3期370-374,共5页The Journal of Practical Medicine

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

摘　　要：目的研究AKT1基因多态性与脑膜瘤发病风险的关系。方法选取2017年10月至2018年1月在北京天坛医院神经外科手术治疗的脑膜瘤患者200例和同期健康体检者200例血液标本并提取DNA,应用SNaPshot基因分型技术对AKT1基因多态位点rs1130214、rs2494746和rs2494752检测,分析AKT1基因多态性与脑膜瘤的易感性。结果AKT1 rs1130214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差异无统计学意义(χ^(2)=1.499,P=0.510)。AKT1基因多态位点rs2494746和rs2494752基因频率在病例组和对照组中基因型和等位基因分布频率差异有统计学意义(rs2494746:χ^(2)=9.236,P=0.010;rs2494752:χ^(2)=9.044,P=0.012)。AKT1位点rs2494746在隐性和加性模型中,携带G等位基因个体脑膜瘤发病风险均增加(P<0.05)。rs2494752在隐性模型下,携带G等位基因个体患脑膜瘤风险增加(P<0.05)。单体型分析结果显示3个单体型(CCA、CGA和CGG)频率在脑膜瘤组和对照组之间差异均有统计学意义(均P<0.05)。结论AKT1基因多态位点rs2494746和rs2494752与脑膜瘤遗传易感性相关,两位点遗传变异均可显著增加脑膜瘤发病风险。Objective To investigate the association between the single nucleotide polymorphisms of AKT1 gene and susceptibility to meningioma.Methods Peripheral venous blood samples were obtained from 200 patients who had underwent neurosurgical treatment and been histologically diagnosed as meningioma were included as the case group and 200 healthy controls in Beijing Tiantan Hospital between October 2017 to January 2018.The AKT1 gene polymorphisms including rs1130214,rs2494746 and rs2494752 were detected by Multiplex SNaPshot methods.The association of AKT1 gene polymorphisms with susceptibility to meningioma was analyzed.Results There was no significant difference in genotype and allele frequencies of rs 1130214 polymorphism of AKT1 gene between case group and control group(χ^(2)=1-499,P=0.510).The genotype and allele distribution frequencies of AKT1 rs2494746 and rs2494752 polymorphisms were significantly different between case group and control group(rs2494746:χ^(2)=9.236,P=0.010;rs2494752:χ^(2)=9.044,P=0.012).For the recessive and additive models of the rs2494746,individuals with G allele had increased risk of meningiomas(P<0.05).Haplotype analysis showed that the frequencies of three haplotypes(CCA、CGA and CGG)were also significantly different between case group and control group(all P<0.05).Conclusion The AKT1 gene polymorphisms rs2494746 and rs2494752 are associated with meningioma susceptibility.Genetic variations of the two polymorphism loci significantly increase the risk of meningioma.

关 键 词：AKT1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：R651.1[医药卫生—外科学]