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首页> 外文期刊>Forensic Sciences Research >Influence of functional polymorphism in MIF promoter on sudden cardiac death in Chinese populations
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Influence of functional polymorphism in MIF promoter on sudden cardiac death in Chinese populations

机译:MIF启动子中的功能多态性对中国人群心源性猝死的影响

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Sudden cardiac death (SCD) is defined as an unexpected natural death without any obvious non-cardiac causes that occurs within 1?h with witnessed symptom onset or within 24?h without witnessed symptom onset. Genetic studies conducted during the past decade have markedly illuminated the genetic basis of the cardiac disorders associated with SCD. Macrophage migration inhibitory factor (MIF) is an upstream immunoregulatory cytokine associated with the pathogenesis of many inflammatory diseases including atherosclerosis and myocardial infarction. Previous studies have reported that the functional ?794(CATT)_(5–8) polymorphism in MIF is unrelated to sudden infant death syndrome susceptibility. However, there are no reports concerning the association between the polymorphism and adult SCD susceptibility. In the current study, we investigated the association between the ?794(CATT)_(5–8) polymorphism and adult SCD susceptibility using 79 adult SCD cases and 313 healthy controls. All samples were analysed using a conventional polymerase chain reaction (PCR) technique. We found that CATT_(6) and 5–6 were the most common allele and genotype in both groups, respectively, while no significant association was found between the ?794(CATT)_(5–8) polymorphism and SCD susceptibility. We also summarized the allele frequencies of ?794(CATT)_(5–8) in cohorts of healthy people from different countries and found that the allele frequency distributions of the polymorphism in Chinese populations were quite different from that of American and European populations (P = 0.005, P = 0.0001, respectively), but similar to Japanese populations (P = 0.827). In conclusion, this study indicates that the ?794(CATT)_(5–8) polymorphism may not be associated with adult SCD susceptibility in Chinese populations. Different allele frequency distributions of the polymorphism in multiple populations may provide a useful reference for further genetic association studies.
机译:突发性心源性死亡(SCD)的定义是在没有任何明显的非心脏原因的情况下发生的意外自然死亡,发生在见证症状发作的1小时内或没有见证症状发作的24小时内。在过去的十年中进行的遗传研究显着阐明了与SCD相关的心脏病的遗传基础。巨噬细胞迁移抑制因子(MIF)是一种上游免疫调节细胞因子,与许多炎性疾病(包括动脉粥样硬化和心肌梗塞)的发病机制有关。先前的研究报告说,MIF中的功能性?794(CATT)_(5-8)多态性与婴儿猝死综合征易感性无关。但是,目前尚无关于多态性与成人SCD易感性之间关系的报道。在本研究中,我们使用79名成人SCD病例和313名健康对照者调查了794794(CATT)_(5-8)多态性与成人SCD敏感性之间的关联。使用常规聚合酶链反应(PCR)技术分析所有样品。我们发现CATT_(6)和5-6分别是两组中最常见的等位基因和基因型,而?794(CATT)_(5-8)多态性与SCD易感性之间没有显着关联。我们还总结了来自不同国家的健康人群的?794(CATT)_(5-8)等位基因频率,发现中国人群中多态性的等位基因频率分布与美国和欧洲人群中的有很大差异( P = 0.005, P = 0.0001),但与日本人口相似( P = 0.827)。总之,这项研究表明,?794(CATT)_(5-8)多态性可能与中国人群中成人SCD易感性无关。多群体中多态性的不同等位基因频率分布可能为进一步的遗传关联研究提供有用的参考。

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