新疆冠心病患者的AHNAK2基因多态性分析

Analysis of AHNAK2 gene polymorphism in Xinjiang patients with coronary heart disease

目的:探讨新疆人群AHNAK2基因rs12882641、rs28583515、rs2582497位点多态性与冠心病(CHD)的关系。方法:本研究采用病例对照方法,选择2019年1月至2021年12月在我院心脏中心住院并行冠脉造影术的602例患者。根据造影结果分为CHD组(n=301)和非CHD组(n=301),采用改良多重连接检测反应(iMLDR)技术对AHNAK2基因rs12882641、rs28583515、rs2582497位点进行基因分型,并分析AHNAK2基因多态性与CHD的关系。结果:与非CHD组相比,CHD组AHNAK2基因rs2582497位点在显性模型中AC+CC的分布频率显著升高(52.8%比61.1%,P=0.040);AHNAK2基因rs28583515位点CC基因型的分布频率显著降低(65.8%比53.8%),但在显性模型中CT+TT的分布频率(34.2%比46.2%)、隐性模型中TT的分布频率(0.7%比3.0%)、相加模型中CT的分布频率(33.6%比43.2%)均显著升高(P<0.05或<0.01)。Logistic回归分析在校正混杂因素后,rs28583515位点的显性模型仍为CHD的独立危险因素(OR=1.509,P=0.036)。结论:在新疆人群中AHNAK2基因rs28583515位点与CHD发生发展密切相关。AHNAK2基因rs28583515位点显性模型是CHD的独立危险因素。

Objective:To explore the relationship between the polymorphisms of AHNAK2 gene rs12882641,rs28583515 and rs2582497 loci and coronary heart disease(CHD)in the population of Xinjiang.Materials:This study used a case-control method,a total of 602 patients who were hospitalized and underwent coronary angiography(CAG)at ourheart center from Jan 2019 to Dec 2021 were selected.According toCAG results,the patients were divided into CHD group(n=301)and non-CHD group(n=301).The AHNAK2 gene rs12882641,rs28583515 and rs2582497 loci were genotyped using the improved multiple ligase detection reaction(iMLDR)technique,and the relationship between AHNAK2 gene polymorphisms and CHD was analyzed.Results:Compared with non-CHD group,there was significant rise in the distribution frequencies of AC+CC genotypes(52.8%vs.61.1%,P=0.040)at rs2582497 locus of the AHNAK2 gene under the dominant model;there was significant reduction in distribution frequency of the CC genotype(65.8%vs.53.8%)at the rs28583515 locus of the AHNAK2 gene,and significant rise in distribution frequencies of CT+TT(34.2%vs.46.2%)under the dominant model,TT under the recessive model(0.7%vs.3.0%)and CT under the additive model(33.6%vs.43.2%)in CHD group,P<0.05 or<0.01.After adjusting for confounding factors,logistic regression analysis indicated that the dominant model of the rs28583515 locus remained an independent risk factor for CHD(OR=1.509,P=0.036).Conclusion:The AHNAK2 gene rs28583515 locus is closely related to the occurrence and development of CHD in the Xinjiang population.The dominant model of the AHNAK2 gene rs28583515 locus is an independent risk factor for CHD.