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维持性血液透析的终末期肾病患者基因多态性与心血管疾病风险的关联

Association of Gene Polymorphism with the Risk of Cardiovascular Disease in End-Stage Kidney Disease Patients on Maintenance Hemodialysis.

作者信息

Osman Enas Ahmed, Shawky Hanan, Abbas Rania Mohammed, Metwaly Amna Ahmed, Ibrahim Anas Hassan, Khanany Farida Mohamed

机构信息

Department of Clinical Chemistry, Theodor Bilharz Research Institute, Giza, Egypt.

Department of Clinical Chemistry, Ain Shams University, Cairo, Egypt.

出版信息

Indian J Nephrol. 2025 Jan-Feb;35(1):29-33. doi: 10.25259/IJN_33_2024. Epub 2024 Jul 15.

Abstract

BACKGROUND

The low-density lipoprotein receptor () is essential for regulating intracellular cholesterol levels. Mutations in the gene can cause a increase in LDL cholesterol levels in the blood, elevating the vulnerability to cardiovascular disease (CVD). This study evaluated the correlation between the rs688 polymorphism and CVD risk in chronic kidney disease (CKD).

MATERIALS AND METHODS

Polymorphism in this case-control study was genotyped using the TaqMan real-time polymerase chain reaction in a cohort of 100 CKD patients (Group I) and 100 healthy controls (Group II). We examined the rs688 allele and genotype distribution in 50 CKD cases with CVD and 50 cases without CVD.

RESULTS

There was a significantly greater frequency of CT variant of LDL SNP rs688 in Group I than in Group II (p = 0.006). CT and TT genotypes were significantly higher in CKD patients with CVD, with odds ratios (ORs) (95% CI) of 4.3 (1.6-11.8, p = 0.004) and 7.6 (2.3-24.8, p = 0.001), respectively.

CONCLUSION

SNP rs688 C>T detection in the gene showed that CT and TT genotypes are associated with elevated CVD risk in CKD.

摘要

背景

低密度脂蛋白受体()对于调节细胞内胆固醇水平至关重要。该基因的突变可导致血液中低密度脂蛋白胆固醇水平升高,增加患心血管疾病(CVD)的易感性。本研究评估了慢性肾脏病(CKD)中低密度脂蛋白受体基因rs688多态性与CVD风险之间的相关性。

材料与方法

在这项病例对照研究中,采用TaqMan实时聚合酶链反应对100例CKD患者(I组)和100例健康对照者(II组)进行基因分型。我们检查了50例患有CVD的CKD患者和50例未患CVD的患者中低密度脂蛋白受体基因rs688的等位基因和基因型分布。

结果

I组中低密度脂蛋白单核苷酸多态性rs688的CT变异频率显著高于II组(p = 0.006)。患有CVD的CKD患者中CT和TT基因型显著更高,优势比(OR)(95%可信区间)分别为4.3(1.6 - 11.8,p = 0.004)和7.6(2.3 - 24.8,p = 0.001)。

结论

低密度脂蛋白受体基因rs688 C>T检测表明,CT和TT基因型与CKD患者CVD风险升高相关。

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Am J Nephrol. 2022;53(10):730-739. doi: 10.1159/000528560. Epub 2022 Dec 8.
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Epidemiology of chronic kidney disease: an update 2022.慢性肾脏病流行病学:2022年最新情况
Kidney Int Suppl (2011). 2022 Apr;12(1):7-11. doi: 10.1016/j.kisu.2021.11.003. Epub 2022 Mar 18.
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Genetics of Common, Complex Coronary Artery Disease.常见复杂冠状动脉疾病的遗传学
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Characteristics of coronary artery disease in chronic kidney disease.慢性肾脏病患者的冠状动脉疾病特征。
Clin Exp Nephrol. 2019 Jun;23(6):725-732. doi: 10.1007/s10157-019-01718-5. Epub 2019 Mar 4.

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