cx印度人群中血栓软蛋白 THBS1 基因和 THBS2 基因的单核苷酸多态性与冠心病的相关性研究

IF 1.2 Q4 GENETICS & HEREDITY Egyptian Journal of Medical Human Genetics Pub Date : 2024-02-29 DOI:10.1186/s43042-024-00498-2
Ale Eba, Syed Tasleem Raza, Irshad A. Wani, Zeba Siddiqi, Mohammad Abbas, Sanchita Srivastava, Farzana Mahdi
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引用次数: 0

摘要

冠状动脉疾病(CAD)是一种复杂的内科疾病,其特点是冠状动脉内粥样硬化斑块堆积,导致血管狭窄和血流受阻。内皮功能障碍、平滑肌细胞增殖以及各种危险因素都是导致冠状动脉粥样硬化的原因。母细胞蛋白,包括血栓软蛋白(THBS),在血管过程和心脏功能中发挥着至关重要的作用。研究人员对来自印度 Era's Lucknow 医学院和医院的 296 名参与者进行了病例对照研究,以调查 THBS1(N700S)和 THBS2(3′ UTR T → G)的遗传变异与 CAD 的关系。分离基因组 DNA,采用 PCR-RFLP 进行基因分型。对临床和生化指标进行评估,并使用 SPSS 软件进行统计分析。研究显示,在印度人群中,年龄、血清胆固醇、高密度脂蛋白、低密度脂蛋白和低密度脂蛋白与 CAD 有显著相关性。然而,甘油三酯和血清肌酐水平以及所研究的 THBS1 和 THBS2 基因多态性与 CAD 之间没有统计学意义上的明显关联。对基因型和等位基因频率的分析也未发现与 CAD 风险有明显关联。这项研究表明,在所研究的印度人群中,THBS1 和 THBS2 的特定基因变异可能与 CAD 的发生或风险没有密切联系。所观察到的年龄、血脂特征和 CAD 之间的关联凸显了 CAD 易感性的多因素性质。为了验证这些发现并探索特定人群中导致 CAD 的其他遗传因素,有必要对更大样本量和不同人群进行进一步研究。
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cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population
Coronary artery disease (CAD) is a complex medical condition characterized by atherosclerotic plaque accumulation in coronary arteries, leading to narrowed blood vessels and impaired blood flow. Endothelial dysfunction, smooth muscle cell proliferation, and various risk factors contribute to CAD development. Matricellular proteins, including thrombospondins (THBS), play crucial roles in vascular processes and cardiac function. A case–control study was conducted among 296 participants from Era's Lucknow Medical College and Hospital, India, to investigate genetic variations in THBS1 (N700S) and THBS2 (3′ UTR T → G) in relation to CAD. Genomic DNA was isolated, and PCR–RFLP was employed for genotyping. Clinical and biochemical parameters were assessed, and statistical analyses were performed using SPSS software. The study revealed that age, serum cholesterol, HDL, VLDL, and LDL were significantly associated with CAD in the Indian population. However, no statistically significant associations were found between triglyceride and serum creatinine levels, as well as the studied THBS1 and THBS2 genetic polymorphisms, and CAD. The analysis of genotypic and allelic frequencies did not indicate significant associations with CAD risk. This study suggests that specific genetic variations in THBS1 and THBS2 may not be strongly linked to the development or risk of CAD in the studied Indian population. The associations observed between age, lipid profiles, and CAD highlight the multifactorial nature of CAD susceptibility. Further research with larger sample sizes and diverse populations is warranted to validate these findings and explore additional genetic factors contributing to CAD in specific populations.
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来源期刊
Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics Medicine-Genetics (clinical)
CiteScore
2.20
自引率
7.70%
发文量
150
审稿时长
18 weeks
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