LDLR 基因多态性与维持性血液透析的终末期肾病患者罹患心血管疾病风险的关系

Pub Date : 2024-07-15 DOI:10.25259/ijn_33_2024
Enas Ahmed Osman, Hanan Shawky, Rania Mohammed Abbas, A. Metwaly, Anas Hassan Ibrahim, Farida M. Khanany
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引用次数: 0

摘要

低密度脂蛋白受体(LDLR)对调节细胞内胆固醇水平至关重要。低密度脂蛋白受体基因突变会导致血液中低密度脂蛋白胆固醇水平升高,从而增加心血管疾病(CVD)的发病率。本研究评估了 LDLR rs688 多态性与慢性肾脏病(CKD)中心血管疾病风险之间的相关性。在这项病例对照研究中,我们使用 TaqMan 实时聚合酶链反应对 100 名慢性肾脏病患者(I 组)和 100 名健康对照者(II 组)进行了基因分型。我们检测了 50 例患有心血管疾病的 CKD 病例和 50 例未患有心血管疾病的病例中 LDLR rs688 等位基因和基因型的分布情况。CT和TT基因型在患有心血管疾病的CKD患者中明显较高,几率比(ORs)(95% CI)分别为4.3(1.6-11.8,p = 0.004)和7.6(2.3-24.8,p = 0.001)。
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Association of LDLR Gene Polymorphism with the Risk of Cardiovascular Disease in End-Stage Kidney Disease Patients on Maintenance Hemodialysis
The low-density lipoprotein receptor (LDLR) is essential for regulating intracellular cholesterol levels. Mutations in the LDLR 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 LDLR rs688 polymorphism and CVD risk in chronic kidney disease (CKD). 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 LDLR rs688 allele and genotype distribution in 50 CKD cases with CVD and 50 cases without CVD. 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. SNP rs688 C>T detection in the LDLR gene showed that CT and TT genotypes are associated with elevated CVD risk in CKD.
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