Osman Enas Ahmed, Shawky Hanan, Abbas Rania Mohammed, Metwaly Amna Ahmed, Ibrahim Anas Hassan, Khanany Farida Mohamed
Department of Clinical Chemistry, Theodor Bilharz Research Institute, Giza, Egypt.
Department of Clinical Chemistry, Ain Shams University, Cairo, Egypt.
Indian J Nephrol. 2025 Jan-Feb;35(1):29-33. doi: 10.25259/IJN_33_2024. Epub 2024 Jul 15.
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).
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.
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 gene showed that CT and TT genotypes are associated with elevated CVD risk in CKD.
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。
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。
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）。
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。
