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伊拉克缺血性心脏病患者中一些心血管遗传危险因素的分子评估

Molecular assessment of some cardiovascular genetic risk factors among Iraqi patients with ischemic heart diseases.

作者信息

Mohammed Wisam Jasim, Al-Musawi Bassam Musa Sadik, Oberkanins Christian, Pühringer Helene

机构信息

Molecular Biology Unit, Central Public Health Laboratory, Baghdad, Iraq.

Department of Pathology, College of Medicine, Baghdad University, Baghdad, Iraq.

出版信息

Int J Health Sci (Qassim). 2018 May-Jun;12(3):44-50.

Abstract

OBJECTIVE

The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs.

METHODS

This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2. Peripheral blood samples were aspirated from all patients for troponin I and DNA testing. Molecular analysis to detect 12 common cardiovascular genetic risk factors using CVD StripAssay (ViennaLab Diagnostics GmbH, Austria) was performed.

RESULTS

The genotype frequencies of 12 genetic mutations/polymorphisms were as follows: MTHFR A1298C and C677T were the highest reported mutations (62.5% and 50%, respectively), followed by β-fibrinogen gene mutation, homozygous angiotensin-converting enzyme D/D, heterozygous human platelet antigen-1(a/b) polymorphisms, plasminogen activator inhibitor-1 4G/4G, homozygous E4 allele of apolipoprotein E gene, Leu allele of Factor XIII V34L variant, heterozygous FV R2, Factor V Leiden mutation, prothrombin G20210A mutation, respectively. Genetic risk scores were calculated and a number ranging from 0 to 8 were given to each patient. None (0%) had a risk score >6 or <2; 22 (39.3%) patients had a risk score of 4 and >60% of cases had a risk score of 4 or more.

CONCLUSION

The obtained results constitute a reference guide where future studies on normal people and older IHD patients can rely on to determine whether these can be used for pre-clinical risk assessment.

摘要

目的

伊拉克人群缺血性心脏病(IHD)的潜在分子基础尚未得到研究。本研究确定了伊拉克IHD患者中一些心血管遗传危险因素的频率和类型。

方法

这是一项横断面研究,在2个月内招募了56例急性IHD患者,排除年龄>50岁的患者和有高脂血症记录的患者。他们的年龄在18至50岁之间;男性54例,女性仅2例。从所有患者中采集外周血样本进行肌钙蛋白I和DNA检测。使用CVD StripAssay(奥地利维也纳实验室诊断有限公司)对12种常见心血管遗传危险因素进行分子分析。

结果

12种基因突变/多态性的基因型频率如下:MTHFR A1298C和C677T是报告频率最高的突变(分别为62.5%和50%),其次是β-纤维蛋白原基因突变、纯合子血管紧张素转换酶D/D、杂合子人类血小板抗原-1(a/b)多态性、纤溶酶原激活物抑制剂-1 4G/4G、载脂蛋白E基因的纯合子E4等位基因、因子XIII V34L变体的Leu等位基因、杂合子FV R2、因子V莱顿突变、凝血酶原G20210A突变。计算遗传风险评分,给每位患者一个0至8的分数。无一例(0%)风险评分>6或<2;22例(39.3%)患者风险评分为4,超过60%的病例风险评分为4或更高。

结论

所获结果构成一份参考指南,未来针对正常人和老年IHD患者的研究可据此确定这些结果能否用于临床前风险评估。

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