Early warning effect of AKT1 genetic polymorphism on atherosclerotic cerebral infarction / 中华行为医学与脑科学杂志

ABSTRACT

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.