The Single Nucleotide Polymorphisms of Chromosome 9p21 and CD147 Were Relevant with the Carotid Plaque Risk in Acute Cerebral Infarction Patients Among Chinese Han Population

The Single Nucleotide Polymorphisms of Chromosome 9p21 and CD147 Were Relevant with the Carotid Plaque Risk in Acute Cerebral Infarction Patients Among Chinese Han Population
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9p21和CD147染色体单核苷酸多态性与中国汉族急性脑梗死患者颈动脉斑块风险相关

DOI:
10.1007/s12031-020-01540-9
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发表时间:
2020-05-11
影响因子:
3.1
通讯作者:
Fu, Yi
Fu, Yi
中科院分区:
医学4区
文献类型:
--
作者:
Jin, Wei;Wu, Weiwen;Fu, Yi

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本研究重点探讨急性非心源性脑梗死颈动脉斑块形成与染色体9p21和CD147单核苷酸多态性的相关性。共有 937 名符合条件的患者入组,并分为颈动脉斑块组或非颈动脉斑块组。分析基线数据,检测染色体9p21和CD147的SNP。通过分析临床数据和SNP结果,我们发现年龄、总胆固醇、低密度脂蛋白、收缩压、空腹血糖和NIHSS评分与斑块形成相关。同时,rs10757274、rs4977574和rs4919862在两组之间存在统计学差异。我们还分析了这三个SNP的连锁不平衡、单倍型和遗传模型,并绘制ROC曲线来评估诊断效率。结果显示,9p21染色体上的SNP rs10757274和rs4977574突变以及位于CD147基因上的SNP rs4919862突变与急性脑缺血患者颈动脉斑块的形成高度相关。与单一SNP基因型突变相比,9p21染色体上的rs10757274或rs4977574与CD147上的rs4919862的等位基因组合突变导致患者的风险更高,这可能与急性脑梗塞的发生有关。
This study focused on the relevance between the carotid plaque formation and the single nucleotide polymorphisms of chromosome 9p21 and CD147 in acute non-cardiogenic cerebral infarction. A total of 937 eligible patients were enrolled and categorized into carotid plaque group or non-carotid plaque group. The baseline data was analyzed, and the SNPs of chromosome 9p21 and CD147 were detected. After analyzing the results of clinic data and SNPs, we found that age, total cholesterol, low density lipoprotein, systolic blood pressure, fasting serum glucose, and NIHSS score are associated with plaque formation. Meanwhile, rs10757274, rs4977574, and rs4919862 existed statistical differences between two groups. We also analyzed linkage disequilibrium, haplotype, and inheritance models of these three SNPs, and drew the ROC curve to assess diagnostic efficiency. The results showed that mutations of SNP rs10757274 and rs4977574 in chromosome 9p21 together with SNP rs4919862 located in gene CD147 were highly relevant with the carotid plague formation in acute cerebral ischemia patients. Compared with single SNP genotype mutation, combined allele mutations on rs10757274 or rs4977574 in chromosome 9p21 with rs4919862 in CD147 resulted in much higher risks of patients, which might be associated with acute cerebral infarction happening.