El Tahry Fadwa A, Hashad Ingy M, Abdel Rahman Mohamed F, Gad Mohamed Z
Clinical Biochemistry Unit, Faculty of Pharmacy and Biotechnology, the German University in Cairo, Cairo, Egypt.
Biochemistry Department, Faculty of Pharmacy, October University for Modern Science and Arts, 6th of October City, Egypt.
Curr Pharm Biotechnol. 2017 Nov 10;18(8):662-668. doi: 10.2174/1389201018666171002125432.
Connexin (Cx) proteins are the building blocks of gap junctions. Among these, Cx37 and Cx40 are expressed on vascular system and reported to have cardioprotective role. Linking polymorphisms in genes coding for Cx and coronary artery disease (CAD) risk showed conflicting results in different populations. None has been studied before in Egyptians. Therefore, the aims of this study were to investigate the influence of Cx37 C1019T and Cx40 A71G polymorphisms on the predisposition of acute myocardial infarction (AMI) in Egyptians, to study linkage disequilibrium (LD) and combined effects of single nucleotide polymorphisms (SNPs) and to correlate the genotypes with sVCAM-1 serum levels.
Total of 201 Egyptian subjects were recruited for the study. They were divided into 104 AMI patients and 97 healthy controls. Genotypes for each participant were determined using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Serum sVCAM-1was measured by ELISA.
Allele frequencies for both Cx37 and Cx40 were not significantly different between AMI and Controls (p=0.93 and p=0.26 respectively). Moreover, studying the dominant and recessive models concluded that none of the genotypes was a risk factor. Both SNPs were not in LD (R2=0.0027). Serum analysis showed higher levels of sVCAM-1 in AMI patients (p<0.0001). sVCAM-1 levels were not significantly different among SNPs (Cx37; p=0.244 and Cx40; p=0.266).
This study shows that Cx37 C1019T and Cx40 A71G polymorphisms are not associated with cardioprotective role in Egyptians. Moreover, both SNPs are inherited separately and none of the genotypes were associated with higher sVCAM-1 levels.
连接蛋白（Cx）是间隙连接的组成部分。其中，Cx37和Cx40在血管系统中表达，据报道具有心脏保护作用。编码Cx的基因中的连锁多态性与冠状动脉疾病（CAD）风险在不同人群中的研究结果相互矛盾。此前尚未在埃及人群中进行过研究。因此，本研究的目的是调查Cx37 C1019T和Cx40 A71G多态性对埃及人急性心肌梗死（AMI）易感性的影响，研究单核苷酸多态性（SNP）的连锁不平衡（LD）和联合效应，并将基因型与可溶性血管细胞黏附分子-1（sVCAM-1）血清水平相关联。
共招募了201名埃及受试者进行研究。他们被分为104例AMI患者和97名健康对照。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）确定每个参与者的基因型。通过酶联免疫吸附测定（ELISA）测量血清sVCAM-1。
AMI组和对照组之间Cx37和Cx40的等位基因频率无显著差异（分别为p = 0.93和p = 0.26）。此外，对显性和隐性模型的研究得出结论，没有一种基因型是危险因素。两个SNP均不存在连锁不平衡（R2 = 0.0027）。血清分析显示AMI患者的sVCAM-1水平较高（p < 0.0001）。SNP之间的sVCAM-1水平无显著差异（Cx37；p = 0.244和Cx40；p = 0.266）。
本研究表明，Cx37 C1019T和Cx40 A71G多态性与埃及人的心脏保护作用无关。此外，两个SNP是独立遗传的，没有一种基因型与较高sVCAM-1水平相关。
