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巨噬细胞移动抑制因子(MIF)启动子功能多态性对中国人群心源性猝死的影响。

Influence of functional polymorphism in MIF promoter on sudden cardiac death in Chinese populations.

作者信息

Yin Zhixia, Zhang Qing, Zhou Wei, Wang Shouyu, Wang Chaoqun, He Yan, Li Lijuan, Gao Yuzhen

机构信息

Department of Forensic Medicine, Medical College of Soochow University, Suzhou, China.

Department of Epidemiology, Medical College of Soochow University, Suzhou, China.

出版信息

Forensic Sci Res. 2017 May 22;2(3):152-157. doi: 10.1080/20961790.2017.1327744. eCollection 2017.

Abstract

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) 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) 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 and 5-6 were the most common allele and genotype in both groups, respectively, while no significant association was found between the -794(CATT) polymorphism and SCD susceptibility. We also summarized the allele frequencies of -794(CATT) 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 ( = 0.005, = 0.0001, respectively), but similar to Japanese populations ( = 0.827). In conclusion, this study indicates that the -794(CATT) 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.

摘要

心源性猝死(SCD)被定义为在出现症状1小时内发生的、无任何明显非心脏原因的意外自然死亡,或在未出现症状24小时内发生的意外自然死亡。过去十年进行的基因研究显著阐明了与SCD相关的心脏疾病的遗传基础。巨噬细胞移动抑制因子(MIF)是一种上游免疫调节细胞因子,与包括动脉粥样硬化和心肌梗死在内的许多炎症性疾病的发病机制相关。先前的研究报道,MIF中功能性-794(CATT)多态性与婴儿猝死综合征易感性无关。然而,尚无关于该多态性与成人SCD易感性之间关联的报道。在本研究中,我们使用79例成人SCD病例和313例健康对照,研究了-794(CATT)多态性与成人SCD易感性之间的关联。所有样本均采用常规聚合酶链反应(PCR)技术进行分析。我们发现,CATT和5-6分别是两组中最常见的等位基因和基因型,而-794(CATT)多态性与SCD易感性之间未发现显著关联。我们还总结了来自不同国家的健康人群队列中-794(CATT)的等位基因频率,发现该多态性在中国人群中的等位基因频率分布与美国和欧洲人群有很大差异(分别为=0.005,=0.0001),但与日本人群相似(=0.827)。总之,本研究表明,-794(CATT)多态性可能与中国人群中的成人SCD易感性无关。该多态性在多个群体中的不同等位基因频率分布可能为进一步的基因关联研究提供有用的参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf44/6197097/d727d6009e69/TFSR_A_1327744_F0001_OC.jpg

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