rs2494739单核苷酸多态性位点与海南汉族和黎族人群动脉粥样硬化性脑梗死的关联研究  

Association between rs2494739 single nucleotide polymorphisms with atherosclerotic cerebral infarction in the Han and Li ethnic groups in Hainan

作　　者：刘勇 范平毅 刘振华 周代锋 Liu Yong;Fan Pingyi;Liu Zhenhua;Zhou Daifeng(Function Department of Danzhou People's Hospital Affiliated to Hainan Medical College,Danzhou 571700,China;School of Basic Medicine and Life Sciences of Hainan Medical College,Haikou 571199,China)

机构地区：[1]海南医学院附属儋州市人民医院功能科,海南省儋州市人民医院功能科,儋州571700 [2]海南医学院基础医学与生命科学学院生物化学与分子生物学教研室,海口571199

出　　处：《中华老年医学杂志》2021年第10期1270-1274,共5页Chinese Journal of Geriatrics

基　　金：海南省儋州市科工信局科技项目 (儋科工信(2020)60号)。

摘　　要：目的研究AKT1基因rs2494739多态性位点与海南汉族和黎族人群脑梗死的关联性。方法纳入汉族脑梗死143例及健康对照组197例,黎族脑梗死患者93例及健康对照组75例,采集外周血提取基因组DNA,利用Snapshot技术进行rs2494739位点多态性检测,利用SPSS25.0进行统计学分析。结果rs2494739在汉、黎族人群中均存在CC、CT、TT 3种基因型,其中在汉族脑梗死和对照组中分布频率分别为19.6%和20.3%、51.7%和51.8%、28.7%和27.9%,在黎族脑梗死和对照组中发生频率为19.3%和33.3%、45.2%和42.7%、35.5%和24.0%,符合Hardy-weinberg遗传平衡定律(P>0.05)。基因型CC在黎族健康人群中的检出率高于汉族健康人群(P<0.05),而在脑梗死病例中黎族与汉族间差异无统计学意义(P>0.05)。共显性遗传验证模型显示3种基因型在汉族试验组和对照组、黎族试验组和对照组样本中的差异均无统计学意义(P=0.981、0.081)。进一步对黎族人群中各基因型的独立效应进行回归分析发现基因型CC在对照组中的分布频率高于试验组(P=0.039,OR=0.48,95%CI为0.237~0.970),等位基因T在黎族人群试验组中的分布频率(58.1%)高于对照组(45.3%)(P=0.020,OR=1.67,95%CI为1.082~2.576)。结论rs2494739多态性在海南汉族与黎族健康人群中的分布频率存在差异性,与海南汉族人群脑梗死发生发展无关,基因型CC是黎族人群脑梗死的保护因素,而等位基因T可能是黎族人群脑梗死的易感因素。Objective To investigate the association between rs2494739 polymorphism of the AKT1 gene and cerebral infarction in the Han and Li ethnic groups in Hainan.Methods A total of 143 cases of cerebral infarction and 197 healthy controls from the Han ethnic group,and 93 cases of cerebral infarction and 75 healthy controls from the Li ethnic group were enrolled.Genomic DNA was collected from peripheral blood.Rs2494739 polymorphisms were detected with the Snapshot technology,and SPSS 25.0 was used for statistical analysis.Results The CC,CT and TT genotypes of rs2494739 were found in both the Han and Li ethnic groups,and their frequencies of distribution were 19.6%,51.7%and 28.7%in the Han cases and 20.3%,51.8%and 27.9%in the Han controls,whereas the frequencies were 19.3%,45.2%and 35.5%in the Li cases and 33.3%,42.7%and 24.0%in the Li controls,conforming to the Hardy-Weinberg equilibrium(P>0.05).The detection rate of genotype CC in the Li healthy controls was significantly higher than that in the Han controls(P<0.05),while no statistical difference was found between the Han and Li cases(P>0.05).The codominance hereditary model showed rs2494739 polymorphisms were not associated with cerebral infarction in the Han and Li ethnic groups(P=0.981 and 0.081,respectively)in Hainan.Further analysis revealed that the distribution frequency of genotype CC in the Li control group was significantly higher than that in the Li patient group(P=0.039,OR=0.48,95%CI:0.237~0.970).The distribution frequency of the T allele in the cases was significantly higher than that in the controls(P=0.020,OR=1.67,95%CI:1.082-2.576).Conclusions Healthy Han and healthy Li ethnic groups in Hainan show differences in polymorphisms of rs2494739,which are not associated with the occurrence and development of cerebral infarction in the Hainan Han population.The CC genotype is a protective factor for the Li ethnicity from cerebral infarction and the T allele may be a susceptibility factor for cerebral infarction for the Li ethnicity in Hainan.

关 键 词：脑梗死 多态性 单核苷酸 动脉粥样硬化 

分 类 号：R743.33[医药卫生—神经病学与精神病学]