Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences and Health Services, Tehran, Iran.
Am J Med Sci. 2011 Nov;342(5):365-70. doi: 10.1097/MAJ.0b013e318215908a.
Transforming growth factor beta 1 (TGF-β1) gene plays an important role in acute myocardial infarction (AMI); however, little is known about the relation of variations within the gene and risk of cardiovascular diseases. In this study, the authors evaluated the influence of TGF-β1 polymorphisms on the onset and progression of AMI in Iranian patients comparing with healthy individuals.
Genomic DNA and peripheral blood mononuclear cells of 900 enrolled patients with AMI and 900 control subjects were extracted. The -509 C/T, 868T/C, 913G/C and 11929C/T TGF-β1 polymorphisms were detected. The messenger RNA (mRNA) expression and serum levels of TGF-β1 were analyzed by real-time reverse-transcriptase polymerase chain reaction and ELISA, respectively.
The frequency of "T" allele in -509 C/T, "C" allele in 868T/C, "C" allele in 913G/C and "T" allele in 11929C/T polymorphisms were significantly higher in the patients than control subjects (P < 0.001). There were significant differences in circulating levels of TGF-β1 in the patients than in control subjects (P < 0.001). These concentrations are associated with its gene polymorphism. The mRNA expression levels of TGF-β1 were significantly higher in the patient serums compared with controls (P < 0.001).
Our results confirmed the association between the TGF-β1 polymorphisms and risk of AMI, which suggest that genetic polymorphisms in TGF-β1 might be helpful for determining susceptibility to AMI in Iranian patients. There are also significant relationship between serum TGF-β1 and occurrence of AMI. In addition, susceptibility to AMI might be related to TGF-β1 gene expression, which affects its serum levels.
转化生长因子-β1(TGF-β1)基因在急性心肌梗死(AMI)中起着重要作用;然而,关于该基因内的变异与心血管疾病风险的关系知之甚少。在这项研究中,作者评估了 TGF-β1 多态性对伊朗患者 AMI 发病和进展的影响,并与健康个体进行了比较。
提取 900 名 AMI 患者和 900 名对照者的基因组 DNA 和外周血单个核细胞。检测 TGF-β1 的-509 C/T、868T/C、913G/C 和 11929C/T 多态性。通过实时逆转录聚合酶链反应和 ELISA 分别分析 TGF-β1 的信使 RNA(mRNA)表达和血清水平。
-509 C/T 中的“T”等位基因、868T/C 中的“C”等位基因、913G/C 中的“C”等位基因和 11929C/T 多态性中的“T”等位基因在患者中的频率明显高于对照组(P <0.001)。患者的循环 TGF-β1 水平明显高于对照组(P <0.001)。这些浓度与其基因多态性有关。与对照组相比,患者血清中 TGF-β1 的 mRNA 表达水平明显升高(P <0.001)。
我们的结果证实了 TGF-β1 多态性与 AMI 风险之间的关联,这表明 TGF-β1 中的遗传多态性可能有助于确定伊朗患者患 AMI 的易感性。TGF-β1 与 AMI 的发生也存在显著关系。此外,AMI 的易感性可能与 TGF-β1 基因表达有关,这会影响其血清水平。