AKT1基因多态性对动脉粥样硬化性脑梗死风险的预警作用

Early warning effect of AKT1 genetic polymorphism on atherosclerotic cerebral infarction

目的探讨AKT1基因rs1130214、rs2494744两位点多态性对海南动脉粥样硬化性脑梗死风险的预警作用。方法本研究采集2019年1月至2020年10月在海南某医院住院治疗243例动脉粥样硬化性脑梗死患者作为脑梗死组,其中汉族148人,黎族95人,同期在医院体检的健康体检者272人作为对照组,其中汉族197人,黎族75人。所有入组对象均签署知情同意书的前提下采集外周抗凝血,提取基因组DNA并进行PCR扩增。利用质谱分析技术对rs1130214、rs2494744进行基因分型,利用SPSS 25.0对基因型在脑梗死组和对照组中的分布频率进行卡方检验。结果不区分民族的情况下,AKT1基因的rs1130214、rs2494744在脑梗死组和对照组中的分布频率均差异无统计学意义(均P>0.05)。rs2494744位点三个基因型AA、AG、GG在汉族脑梗死组中的分布频率为44.59%、51.36%、4.05%,在汉族对照组中的分布频率为47.21%、42.13%、10.66%,组间差异具有统计学意义(χ^(2)=6.396,P<0.05)。对三个基因型的独立效应进行回归分析,结果表明基因型GG可能是汉族人群脑梗死的抵抗因素(P=0.024,OR=0.354,95%CI:0.139~0.901)。rs2494744三个基因型AA、AG、GG在黎族脑梗死组中的发生例(率)为58(61.05%)、25(26.32%)、12(12.63%),黎族对照组中为28(37.33%)、39(52.00%)、8(10.67%),三种基因型组间分布差异有统计学意义(χ^(2)=12.143,P<0.05),AA在黎族脑梗死人群中的分布频率显著高于对照组(P<0.01,OR=2.631,95%CI=1.410~4.909),AG则相反(P=0.001,OR=0.33,95%CI=0.173~0.627)。结论AKT1基因多态性位点rs2494744基因型AA是黎族人群脑梗死的风险因子,对海南黎族脑梗死人群具有潜在的预警价值。

Objective To investigate the early warning effect of two polymorphisms of AKT1 gene(rs1130214,rs2494744)on the risk of atherosclerotic cerebral infarction in Hainan province.Methods In this study,totally 243 patients with atherosclerotic cerebral infarction who were hospitalized of Hainan Province from January 2019 to October 2020 were selected as the cerebral infarction group,including 148 Han nationality people and 95 Li nationality people.And 272 healthy people who received physical examination in the same hospital during the same period were selected as the control group,including 197 Han nationality people and 75 Li nationality people.All participants signed informed consent.The peripheral anticoagulant DNA was collected,and the genomic DNA was extracted and amplified by PCR.The genotypes of rs1130214 and rs2494744 were analyzed by mass spectrometry,and the distribution frequency of genotypes in cerebral infarction group and control group was analyzed by Chi-square test with SPSS 25.0 software.Results Regardless of nationality,there was no significant difference in the distribution frequency of rs1130214 and rs2494744 of AKT1 gene between cerebral infarction group and control group(both P>0.05).The frequencies of AA,AG and GG genotypes of rs2494744 locus were 44.59%,51.36%and 4.05%in the cerebral infarction group of Han nationality,while they were 47.21%,42.13%and 10.66%in the control group of Han nationality,with significant difference between the two groups(χ^(2)=6.396,P<0.05).The independent effects of the three genotypes were analyzed by regression analysis.The results showed that GG genotype might be a resistance factor of cerebral infarction in Han population(P=0.024,OR=0.354,95%CI:0.139-0.901).The frequency of AA,AG and GG genotypes of rs2494744 was 58(61.05%),25(26.32%),12(12.63%)in the control group of Li nationality,and 28(37.33%),39(52.00%),8(10.67%)in the control group of Li nationality.The results showed that the distribution of AA was significantly higher than that of the control group(P<0.05,OR=2.631,95%CI=1.410-4.09),while AG was on the contrary(P<0.05,OR=0.330,95%CI=0.173-0.627).Conclusion AA genotype of rs2494744 in AKT1 gene polymorphism is a risk factor for cerebral infarction in Li nationality group,which has potential early warning value for cerebral infarction in Hainan Li nationality group,while AG has protective effect on cerebrovascular health in Hainan Li nationality group.