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基因变异对心血管健康的影响:一项病例对照研究。

Gene Variation's Impact on Cardiovascular Health: A Case-Control Study.

作者信息

Ismail Aya Badeea, Balcıoğlu Özlem, Özcem Barçın, Ergoren Mahmut Çerkez

机构信息

Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia 99138, Cyprus.

Department of Cardiovascular Surgery, Faculty of Medicine, Near East University, Nicosia 99138, Cyprus.

出版信息

Biomedicines. 2024 Mar 21;12(3):695. doi: 10.3390/biomedicines12030695.

Abstract

Chronic venous insufficiency (CVI) is a common medical condition characterized by impaired functioning of the venous system in the lower extremities. It leads to various symptoms, including varicose veins, leg edema, and skin pigmentation. It is believed that a combination of genetic and environmental factors affect the development of CVI. The gene is of particular interest in this context, as it plays a role in lipid metabolism and inflammation. The ε4 allele (rs429358) has been associated with an increased risk of Alzheimer's disease, while the ε2 allele (rs7412) has shown a protective effect against Alzheimer's disease but a strong association with cardiovascular inflammation. This research aimed to investigate the presence of gene variants in individuals with chronic venous insufficiency disease and validate the relationship between this gene and cardiovascular diseases. The study analyzed the expression of gene variants in varicose vein tissue samples from patients and a normal vein in the control group. The results indicated no significant expression of the ε4 allele in either group. However, there was a significant decrease in the expression of the ε2 allele in the patient group. Additionally, a negative correlation was observed between the two single nucleotide polymorphisms (SNPs) in vein tissue. The lower expression of the ε2 allele in patients suggests a potentially reduced risk of cardiovascular disease in these individuals. Consequently, there appears to be a weaker association between the expression of the APOE gene ε2 allele and cardiovascular diseases.

摘要

慢性静脉功能不全(CVI)是一种常见的医学病症,其特征是下肢静脉系统功能受损。它会导致各种症状,包括静脉曲张、腿部水肿和皮肤色素沉着。人们认为遗传和环境因素的综合作用会影响CVI的发展。在这种情况下,该基因特别受关注,因为它在脂质代谢和炎症中起作用。ε4等位基因(rs429358)与阿尔茨海默病风险增加有关,而ε2等位基因(rs7412)对阿尔茨海默病有保护作用,但与心血管炎症有很强的关联。本研究旨在调查慢性静脉功能不全疾病患者中该基因变异的存在情况,并验证该基因与心血管疾病之间的关系。该研究分析了患者静脉曲张组织样本和对照组正常静脉中该基因变异的表达情况。结果表明,两组中ε4等位基因均无明显表达。然而,患者组中ε2等位基因的表达显著降低。此外,在静脉组织中观察到两个单核苷酸多态性(SNP)之间呈负相关。患者中ε2等位基因表达较低表明这些个体患心血管疾病的风险可能降低。因此,APOE基因ε2等位基因的表达与心血管疾病之间的关联似乎较弱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/312a/10968441/b478d8e116ac/biomedicines-12-00695-g001.jpg

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