Li Yu, Zhang Qiang, Bao Haiping, Nie Chen
The Second Affiliated Hospital of Dalian Medical University, Department of Neurology, Dalian, China.
Dalian Shipyard Rehabilitation Hospital, Department of Rehabilitation Medicine, Dalian, China.
J Med Biochem. 2022 Apr 8;41(2):204-210. doi: 10.5937/jomb0-34196.
We aimed to investigate the expression of Klotho gene in peripheral blood of patients with cerebral infarction (CI) and the association of its polymorphisms with the occurrence of CI.
A total of 60 CI patients (CI group) and 20 healthy people receiving physical examination (control group) were enrolled as the research subjects. The expression of Klotho gene in CI group and control group was determined using enzyme-linked immunosorbent assay kit. Single nucleotide polymorphisms (rs192031, rs200131 and rs102312) in the promoter region of the Klotho gene were typed via conformational difference gel electrophoresis. Besides, whether the distribution frequencies of Klotho genotypes conformed to Hardy-Weinberg equilibrium was evaluated by chi-square test. Meanwhile, the associations of Klotho alleles and gene polymorphisms with CI occurrence were analyzed.
The protein expression level of Klotho in the peripheral blood was remarkably lower in patients in CI group than that in control group (P<0.05).HardyWeinberg equilibrium analysis revealed that Klotho gene polymorphisms (rs192031, rs200131 and rs102312) conformed to the genetic equilibrium distribution (P>0.05). Gene-based association analysis manifested that only rs192031 polymorphism and alleles were correlated with CI occurrence (P<0.05). Systolic blood pressure and highdensity lipoprotein cholesterol were notably higher in CI patients with TT genotype of Klotho gene polymorphism rs192031 than those in control group (P<0.05). Furthermore, there were no associations of rs200131 and rs102312 polymorphisms and alleles with the occurrence of CI (P>0.05).
The expression level of Klotho is evidently reduced in the peripheral blood of CI patients. Rs192031 in the promoter region of the Klotho gene is associated with the occurrence of CI, while rs200131 and rs102312 have no relations with CI.
我们旨在研究脑梗死（CI）患者外周血中Klotho基因的表达情况及其多态性与CI发生的关联。
共纳入60例CI患者（CI组）和20例接受体检的健康人（对照组）作为研究对象。使用酶联免疫吸附测定试剂盒测定CI组和对照组中Klotho基因的表达。通过构象差异凝胶电泳对Klotho基因启动子区域的单核苷酸多态性（rs192031、rs200131和rs102312）进行分型。此外，通过卡方检验评估Klotho基因型的分布频率是否符合Hardy-Weinberg平衡。同时，分析Klotho等位基因和基因多态性与CI发生的关联。
CI组患者外周血中Klotho的蛋白表达水平明显低于对照组（P<0.05）。Hardy-Weinberg平衡分析显示，Klotho基因多态性（rs192031、rs200131和rs102312）符合遗传平衡分布（P>0.05）。基于基因的关联分析表明，只有rs192031多态性和等位基因与CI发生相关（P<0.05）。Klotho基因多态性rs192031的TT基因型CI患者的收缩压和高密度脂蛋白胆固醇明显高于对照组（P<0.05）。此外，rs200131和rs102312多态性及等位基因与CI发生无关联（P>0.05）。
CI患者外周血中Klotho的表达水平明显降低。Klotho基因启动子区域的rs192031与CI发生相关，而rs200131和rs102312与CI无关。
