神经药理学报 ›› 2021, Vol. 11 ›› Issue (6): 1-.DOI: 10.3969/j.issn.2095-1396.2021.06.001

• 研究论文 •    下一篇

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

周璐瑾,崔思瑶,陈素艳,等   

  1. 河北北方学院医学检验学院,张家口,075000,中国
  • 出版日期:2021-12-26 发布日期:2021-12-26
  • 通讯作者: 王文栋,硕士研究生,讲师;研究方向:生物信息学、代谢与生物钟紊乱方面研究;E-mail:190594526@qq.com 常晓彤,硕士,教授;研究方向:脂代谢障碍相关疾病的分子机制与临床应用;E-mail:changxt1212@vip. sina.com
  • 作者简介:周璐瑾,2020 级在读硕士研究生;研究方向:促炎途径与抗炎途径与胰岛素抵抗的相关性研究;E-mail:897618416@qq.com

Study on Association of CD14 -159C/T and Cardiovascular Disease in the Han Nationality from Zhangjiakou

ZHOU Lu-jin,CUI Si-yao,CHEN Su-yan,et al   

  1. College of Lab Medicine,Hebei North University,Zhangjiakou,075000,China
  • Online:2021-12-26 Published:2021-12-26

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。

关键词: 心血管疾病, CD14 基因, 生物信息学, 基因多态性

Abstract:

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 125 healthy 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.

Key words: cardiovascular disease, CD14 gene, bioinformatics, gene polymorphism

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