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连接蛋白37基因C1019T多态性与早发冠状动脉疾病的心肌梗死风险

C1019T Polymorphism in the Connexin 37 Gene and Myocardial Infarction Risk in Premature Coronary Artery Disease.

作者信息

Sheikhvatan Mehrdad, Boroumand Mohammadali, Behmanesh Mehrdad, Abbasi Seyed Hesameddin, Davoodi Gholamreza, Ziaee Shayan, Cheraghi Sara

机构信息

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

Department of Human Genetics, Tarbiat Modarres University, Tehran, Iran.

出版信息

J Tehran Heart Cent. 2017 Apr;12(2):72-81.

Abstract

The C1019T polymorphism of the connexin-37 (GJA4) gene is a single-nucleotide polymorphisms involved in atherosclerotic plaque rupture and atherosclerosis predisposition. We examined the association between the C1019T polymorphism of the GJA4 gene and the occurrence of myocardial infarction (MI) in patients with premature coronary artery disease (CAD). Our study recruited 1000 patients with the final diagnosis of premature CAD and classified them into 2 groups: with a history of MI (n = 461) and without it (n = 539). The polymorphism variants were determined via the PCR-RFLP, and then genotyping was conducted through the high-resolution melting method. From a total of 1000 patients, 554 patients, who had been previously followed-up with a median follow-up time of 45.74 months vis-à-vis long-term major adverse cardiac events, were enrolled in this retrospective cohort phase. The frequencies of the wild, heterozygous, and mutant genotypes of the C1019T polymorphism were 54.0%, 40.6%, and 5.4% in the MI group and 49.2%, 43.2%, and 7.6% in the non-MI group (p value = 0.187). After adjustment for the baseline covariates, no difference was found between the MI and non-MI groups apropos the frequency of the heterozygous genotype (p value = 0.625) and the mutant genotype (p value = 0.452). Regarding the level of human connexin-37, the serum level of this marker was not different between the MI and non-MI groups. The C1019T polymorphism of the GJA4 gene may not be useful for predicting the occurrence of MI in patients with premature CAD. The presence of this polymorphism in such patients may also have a low value for predicting long-term CAD complications.

摘要

连接蛋白37(GJA4)基因的C1019T多态性是一种单核苷酸多态性,与动脉粥样硬化斑块破裂和动脉粥样硬化易感性有关。我们研究了GJA4基因的C1019T多态性与早发性冠状动脉疾病(CAD)患者心肌梗死(MI)发生之间的关联。我们的研究招募了1000例最终诊断为早发性CAD的患者,并将他们分为两组:有MI病史的患者(n = 461)和无MI病史的患者(n = 539)。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)确定多态性变体,然后通过高分辨率熔解法进行基因分型。在总共1000例患者中,554例患者被纳入该回顾性队列研究阶段,这些患者之前进行过随访,中位随访时间为45.74个月,随访内容为长期主要不良心脏事件。MI组中C1019T多态性的野生型、杂合子型和突变型基因型频率分别为54.0%、40.6%和5.4%,非MI组分别为49.2%、43.2%和7.6%(p值 = 0.187)。在对基线协变量进行调整后,MI组和非MI组在杂合子基因型频率(p值 = 0.625)和突变型基因型频率(p值 = 0.452)方面未发现差异。关于人连接蛋白37的水平,MI组和非MI组之间该标志物的血清水平没有差异。GJA4基因的C1019T多态性可能无助于预测早发性CAD患者MI的发生。在这类患者中,这种多态性的存在对于预测CAD长期并发症的价值可能也较低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cdc/5558058/dc2fe6db9547/JTHC-12-72-g001.jpg

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