背景:细胞外基质(ECM)糖蛋白的改变与动脉粥样硬化的发病机制和并发症有关。导致急性冠脉综合征（ACS）。Tenascin-C(TNC),一种ECM蛋白，已经在发病机制中实施，诊断,心血管疾病患者的预后。目的：该研究旨在比较南印度人与ACS和健康参与者之间的TNC基因（rs13321，rs2104772和rs12347433）的遗传变异。材料和方法：本病例对照研究招募了150名ACS患者作为病例，150名健康参与者作为对照。使用TaqMan5'-核酸外切酶等位基因鉴别测定法进行TNC基因分型。采用酶联免疫吸附法测定血清TNC水平。结果：病例血清TNC水平明显高于对照组。rs13321，rs2104772和rs12347433的等位基因和基因型频率在病例和对照组之间没有显着差异。这得到了主导地位的证实，隐性,共显性，和纯合子遗传模型。具有rs13321，rs2104772和rs12347433杂合基因型的患者的血清TNC水平明显低于具有相应纯合基因型的患者。单倍型分析显示，rs13321-rs12347433-rs2104772区块中的C-T-A单倍型与较低的ACS风险相关（OR=0.33，95％CI：0.15-0.75；p=0.005）。此外，TNC基因的C-T-T和G-T-A单倍型与较高和较低的血清TNC水平相关，分别。结论：我们的研究表明，TNC基因的单核苷酸多态性与ACS风险之间没有遗传关联；然而，TNC基因的C-T-A单倍型可能与南印度人ACS风险降低相关.
Background: The extracellular matrix (ECM) glycoprotein changes are associated with the pathogenesis and complications of atherosclerosis, leading to acute coronary syndrome (ACS). Tenascin-C (TNC), an ECM protein, has been implemented in the pathogenesis, diagnosis, and prognosis of patients with cardiovascular disease. Aim: The study aimed to compare the genetic variants of the TNC gene (rs13321, rs2104772, and rs12347433) between South Indians with ACS and healthy participants. Materials and Methods: This
case-control study recruited 150 ACS patients as cases and 150 healthy participants as controls. TNC genotyping was performed using TaqMan 5\'-exonuclease allele discrimination assay. Serum TNC levels were measured by enzyme-linked immunosorbent assay. Results: Serum TNC levels were significantly higher in cases compared with controls. No significant difference was observed in allele and genotype frequencies of rs13321, rs2104772, and rs12347433 between cases and controls, which was confirmed by dominant, recessive, codominant, and homozygotic genetic models. The patients with heterozygous genotypes of rs13321, rs2104772, and rs12347433 had significantly lower serum TNC levels than patients with respective homozygous genotypes. Haplotype analyses revealed that the C-T-A haplotype in the block of rs13321-rs12347433-rs2104772 was associated with lower ACS risk (OR = 0.33, 95% CI: 0.15 - 0.75; p = 0.005). Also, the C-T-T and G-T-A haplotypes of the TNC gene were associated with higher and lower serum TNC levels, respectively. Conclusion: Our study demonstrated no genetic association between single nucleotide polymorphisms of the TNC gene and ACS risk; however, the C-T-A haplotype of the TNC gene might be associated with reduced ACS risk in South Indians.
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