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基质金属蛋白酶9基因R279Q和C1562T多态性与早发冠状动脉疾病患者心肌梗死风险增加的关联

Association of R279Q and C1562T polymorphisms of matrix metalloproteinase 9 gene and increased risk for myocardial infarction in patients with premature coronary artery disease.

作者信息

Sheikhvatan Mehrdad, Boroumand Mohammad Ali, Behmanesh Mehrdad, Ziaee Shayan

机构信息

Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.

Tarbiat Modarres University, Tehran, Iran.

出版信息

J Clin Lab Anal. 2018 Jan;32(1). doi: 10.1002/jcla.22218. Epub 2017 Apr 28.

Abstract

BACKGROUND

A number of matrix metalloproteinase (MMP) gene polymorphisms has been identified which may be probably related to premature myocardial infarction (MI).

OBJECTIVE

We assessed the relationship between the two polymorphisms of the MMP9 gene including R279Q and C1562T and occurrence of premature MI.

METHODS

The study has two phases including a case-control study as the first phase and cohort study as the second phase. Initially, 1000 patients with premature coronary artery disease were classified into MI and non-MI groups. Genotyping of the polymorphism was conducted by PCRRFLP and high-resolution melting techniques. Given the two conditions of patients residing in Tehran and faced with their first episode of MI, 640 of 1000 study samples previously followed up with a median follow-up time of 45.74 months were assessed in a retrospective cohort phase regarding long-term major adverse cardiac events (MACE).

RESULTS

The prevalence of wild, heterozygous, and mutant genotypes of R279Q polymorphism in MI group was 14.5%, 57.3%, and 28.2% and in non-MI group was 36.9%, 38.4%, and 24.7%, respectively, with a considerable difference (P<.001). There was a significant difference in the prevalence of wild, heterozygous, and mutant genotypes of C1562T polymorphisms in MI group (12.4%, 41.2%, and 46.4%, respectively) and in non-MI group (46.8%, 38.6%, and 14.7%, respectively; P<.001). No difference was found in total MACE-free survival rate between genotypes of R279Q and C1562T polymorphisms.

CONCLUSION

C1562T and R279Q polymorphisms are associated with the susceptibility to premature MI, but cannot predict long-term cardiac events in these patients.

摘要

背景

已鉴定出多种基质金属蛋白酶(MMP)基因多态性,其可能与早发心肌梗死(MI)相关。

目的

我们评估了MMP9基因的两种多态性(R279Q和C1562T)与早发MI发生之间的关系。

方法

该研究分为两个阶段,第一阶段为病例对照研究,第二阶段为队列研究。最初,将1000例早发冠状动脉疾病患者分为MI组和非MI组。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和高分辨率熔解技术对多态性进行基因分型。鉴于患者居住在德黑兰且首次发生MI的情况,在回顾性队列研究阶段,对1000例研究样本中的640例进行了评估,这些样本的中位随访时间为45.74个月,评估内容为长期主要不良心脏事件(MACE)。

结果

MI组中R279Q多态性的野生型、杂合子型和突变型基因型的患病率分别为14.5%、57.3%和28.2%,非MI组分别为36.9%、38.4%和24.7%,差异有统计学意义(P<0.001)。MI组中C1562T多态性的野生型、杂合子型和突变型基因型的患病率分别为12.4%、41.2%和46.4%,非MI组分别为46.8%、38.6%和14.7%,差异有统计学意义(P<0.001)。R279Q和C1562T多态性的基因型之间在无MACE总生存率方面未发现差异。

结论

C1562T和R279Q多态性与早发MI的易感性相关,但不能预测这些患者的长期心脏事件。

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J Clin Lab Anal. 2018 May;32(4):e22421. doi: 10.1002/jcla.22421. Epub 2018 Feb 16.

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