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张家口籍汉族人CD14基因及其-159C/T位点多态性与心血管疾病关联研究 被引量:1

Study on Association of CD14-159C/T and Cardiovascular Disease in the Han Nationality from Zhangjiakou
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摘要 目的:探讨人白细胞分化抗原14(cluster of differentiation antigen 14,CD14)基因编码蛋白的理化性质、功能和基因多态性与心血管疾病的相关性,为预防、治疗心血管疾病提供依据。方法:收集心血管疾病患者血浆标本75例(男性患者42例,女性患者33例);健康对照组125例(男性患者80例,女性患者45例),抽取静脉血提取基因组DNA,利用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)技术检测CD14基因-159C/T(rs2569190)位点多态性,并通过电泳观察酶切结果,统计基因型频率,判断其与心血管疾病的相关性。利用生物信息学方法对CD14基因编码蛋白进行理化性质、结构、功能和互作分析论证CD14基因编码蛋白与心血管疾病发生存在的联系。结果:在患病组CD14-159C/T(rs2569190)的TT基因型分布频率为56%,显著高于正常对照组(40.8%),差异具有统计学意义(P<0.05),其余基因型均无统计学意义(P>0.05)。CD14为分泌蛋白,位于细胞外基质,无跨膜区,亲水性较弱。CD14蛋白二级结构中无规则卷曲较多(占41.87%)。CD14与10个蛋白直接互作,在Toll样受体4信号通路和MyD88依赖的Toll样受体信号转导途径中发挥重要作用。结论:CD14基因-159C/T(rs2569190) TT基因型,与心血管疾病发生密切相关,CD14蛋白可能在心血管疾病的发生发展过程中发挥重要作用。 Objective:To investigate the correlation between the physicochemical properties,functions and gene polymorphisms of the protein encoded by the cluster of differentiation antigen 14(CD14) gene and cardiovascular disease,so as to provide basis for the prevention and treatment of cardiovascular disease. Methods:Plasma samples were collected from 75 patients with cardiovascular disease(including 42 male patients and 33 female patients),and 125healthy controls(including 80 male patients and 45 female patients). Genomic DNA was extracted from their venous blood. The polymorphism of-159C/T(rs2569190) locus of CD14 gene was detected by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP),and the results of enzyme digestion were observed by electrophoresis. The correlation between the polymorphism of-159C/T and cardiovascular disease was detected by genotype frequency. The physical and chemical properties,structure,function and interaction of CD14 gene coding protein were analyzed by bioinformatics methods to demonstrate the relationship between CD14 gene coding protein and cardiovascular disease. Results:The distribution frequency of TT genotype of CD14-159C/T(rs2569190) in the diseased group was 56%,which was significantly higher than that in the normal control group(40.8%). The difference was statistically significant(P<0.05),and the other genotypes were not statistically significant(P>0.05). CD14 is a secretory protein,located in the extracellular matrix,without transmembrane region and weak hydrophilicity. There were more irregular curls in the secondary structure of CD14 protein(41.87%). CD14 interacts directly with 10 proteins and plays an important role in Toll like receptor 4 signaling pathway and MyD88 dependent toll like receptor signaling pathway. Conclusion:The-159C/T(rs2569190) TT genotype of CD14 gene is closely related to the occurrence of cardiovascular disease. CD14 protein may play an important role in the occurrence and development of cardiovascular disease.
作者 周璐瑾 崔思瑶 陈素艳 李喜龙 刘俊杰 闫珂 王瑾洁 王文栋 常晓彤 ZHOU Lu-jin;CUI Si-yao;CHEN Su-yan;LI Xi-long;LIU Jun-jie;YAN Ke;WANG Jin-jie;WANG Wen-dong;CHANG Xiao-tong(College of Lab Medicine,Hebei North University,Zhangjiakou,075000,China)
出处 《神经药理学报》 2021年第6期1-9,16,共10页 Acta Neuropharmacologica
基金 河北省省属高校基本科研业务费自然科学研究计划项目(No.JYT2021008),河北省大学生创新创业计划项目(No.S202110092024)。
关键词 心血管疾病 CD14基因 生物信息学 基因多态性 cardiovascular disease CD14 gene bioinformatics gene polymorphism
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