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凝血酶原基因多态性与心肌梗死易感性的关联。 (你提供的原文中“and”前缺少具体内容,我根据常见表述进行了补充翻译,若与原文不一致,请提供完整准确原文。)

Association of and prothrombin polymorphisms with susceptibility to myocardial infarction.

作者信息

Hmimech Wiam, Idrissi Hind Hassani, Diakite Brehima, Baghdadi Dalila, Korchi Farah, Habbal Rachida, Nadifi Sellama

机构信息

Laboratory of Genetics and Molecular Pathology, Medical School, University Hassan II, Casablanca BP 9154, Morocco.

Department of Cardiology, Ibn Rochd University Hospital Center, Casablanca 20102, Morocco.

出版信息

Biomed Rep. 2016 Sep;5(3):361-366. doi: 10.3892/br.2016.717. Epub 2016 Jul 13.

Abstract

Myocardial infarction (MI) is a common complex pathology, localized in the main leading causes of mortality worldwide. It is the result of the interaction of genetic and environmental factors. The aim of the present study was to investigate the potential association of C677T 5,10-methylenetetrahydrofolate reductase () (rs1801133) and factor II prothrombin () (rs1799963) polymorphisms with the susceptibility of MI. Following extraction by the standard salting-out procedure, DNA samples of 100 MI patients and 182 apparently healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism using I and III restriction enzymes, respectively. The results show a significant association of the polymorphism with the MI risk. The frequencies of the heterozygote genotype GA, homozygous mutated AA and the allele was higher among patients compared to controls (GA: 59 vs. 5.5%, P<0.001; AA: 10 vs. 0%, P=0.003; and 20210A: 39.5 vs. 2.7%, P<0.003), suggesting that this polymorphism may be a potential genetic marker for MI. No significant association was observed between the and MI occurrence, and there was more heterozygote CT in the patient group compared to the controls. As a multifactorial disease, the development of MI may be the result of numerous factors that influence synergistically its occurrence. Thus, further studies are merited to try to better assess these associations (gene-gene and gene-environment interactions).

摘要

心肌梗死(MI)是一种常见的复杂病理状况,位列全球主要致死原因之中。它是遗传因素与环境因素相互作用的结果。本研究的目的是调查5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T(rs1801133)和凝血因子II凝血酶原(FII)(rs1799963)基因多态性与心肌梗死易感性之间的潜在关联。通过标准盐析法提取DNA样本后,分别使用I和III限制性内切酶,采用聚合酶链反应-限制性片段长度多态性方法对100例心肌梗死患者和182例明显健康的对照者的DNA样本进行基因分型。结果显示MTHFR基因多态性与心肌梗死风险存在显著关联。与对照组相比,患者中杂合子基因型GA、纯合突变型AA以及20210A等位基因的频率更高(GA:59%对5.5%,P<0.001;AA:10%对0%,P = 0.003;20210A:39.5%对2.7%,P<0.003),表明这种多态性可能是心肌梗死的一个潜在遗传标记。未观察到FII基因多态性与心肌梗死发生之间存在显著关联,且患者组中的杂合子CT比对照组更多。作为一种多因素疾病,心肌梗死的发生可能是多种因素协同影响的结果。因此,值得进一步开展研究以更好地评估这些关联(基因-基因和基因-环境相互作用)。

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