Association of Tenascin-C Gene Polymorphisms with Risk of Acute Coronary Syndrome in South Indian Population: A Case-Control Genetic Association Study.

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-03-01 Epub Date: 2024-03-12 DOI:10.1089/gtmb.2023.0482
Sankar Abirami, Prashant Shankarrao Adole, Kolar Vishwanath Vinod
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Abstract

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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南印度人群中 Tenascin-C 基因多态性与急性冠状动脉综合征风险的关系:病例对照遗传关联研究
背景:细胞外基质(ECM)糖蛋白的变化与动脉粥样硬化的发病机制和并发症有关,导致急性冠状动脉综合征(ACS)。Tenascin-C(TNC)是一种 ECM 蛋白,已被用于心血管疾病患者的发病机制、诊断和预后。目的:该研究旨在比较患有 ACS 的南印度人与健康参与者之间的 TNC 基因遗传变异(rs13321、rs2104772 和 rs12347433)。材料与方法:这项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。采用 TaqMan 5'-exonuclease 等位基因鉴别测定法进行 TNC 基因分型。血清 TNC 水平通过酶联免疫吸附试验测定。结果显示与对照组相比,病例的血清TNC水平明显较高。病例与对照组之间的 rs13321、rs2104772 和 rs12347433 的等位基因和基因型频率无明显差异,这一点已通过显性、隐性、共显性和同卵遗传模型得到证实。rs13321、rs2104772和rs12347433杂合基因型患者的血清TNC水平明显低于各自同源基因型的患者。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 单倍型分别与较高和较低的血清 TNC 水平相关。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;但是,在南印度人中,TNC 基因的 C-T-A 单倍型可能与 ACS 风险降低有关。
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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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