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Int J Cardiol Cardiovasc Risk Prev. 2023 Oct 19;19:200222. doi: 10.1016/j.ijcrp.2023.200222. eCollection 2023 Dec.
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Association of single nucleotide polymorphisms with dyslipidemia and risk of metabolic disorders in the State of Qatar.单核苷酸多态性与血脂异常及卡塔尔代谢紊乱风险的关联。
Mol Genet Genomic Med. 2023 Aug;11(8):e2178. doi: 10.1002/mgg3.2178. Epub 2023 May 5.
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心血管风险高至极高患者中低密度脂蛋白受体(LDLR)基因rs688多态性特征及其与血脂异常相关性的研究

Investigation of the characteristics of LDLR gene rs688 polymorphism and its association with dyslipidemia in patients at high to very high cardiovascular risk.

作者信息

Sen Nguyen Thi Thu, Nga Pham Thi Ngoc, Toan Ngo Hoang, Kien Nguyen Trung

机构信息

Department of Internal Medicine, Faculty of Medicine, Can Tho University of Medicine and Pharmacy, Can Tho , 90000, Vietnam.

Department of Biology and Genetics, Faculty of Basic Sciences, Can Tho University of Medicine and Pharmacy, Can Tho, 90000, Vietnam.

出版信息

BMC Cardiovasc Disord. 2025 Sep 26;25(1):666. doi: 10.1186/s12872-025-05113-9.

DOI:10.1186/s12872-025-05113-9
PMID:41013249
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12465651/
Abstract

BACKGROUND

The rs688 polymorphism in the LDLR gene has been linked to lipid profile alterations, yet its impact in patients at high to very high cardiovascular risk remains unclear.

OBJECTIVES

To investigate the association between the LDLR rs688 polymorphism and dyslipidemia in high to very high cardiovascular risk patients.

METHODS

This cross-sectional study included patients classified as high or very high cardiovascular risk and matched controls at Can Tho University of Medicine and Pharmacy Hospital. Blood lipid profiles and LDLR rs688 genotyping were assessed using Realtime-PCR.

RESULTS

Among 80 patients (mean age 62.36 ± 10.49 years; 35.0% male), CT and TT genotypes were more frequent compared to controls (37.5% vs. 30.6%, and 15.0% vs. 3.8%, respectively). The T allele was also more prevalent (33.8% vs. 19.1%). Dyslipidemia was present in 68.8% of patients. T allele carriers had higher dyslipidemia rates (90.7% vs. 57.5%), higher LDLc (5.42 ± 1.51 mmol/L vs. 3.19 ± 1.37 mmol/L), and lower HDLc (0.70 ± 0.25 mmol/L vs. 1.03 ± 0.32 mmol/L) compared to C allele carriers. Multivariate analysis identified the T allele (OR = 14.18) and diabetes mellitus (OR = 4.85) as independent predictors of dyslipidemia.

CONCLUSION

The LDLR rs688 T allele and diabetes mellitus independently increases dyslipidemia risk among patients at high to very high cardiovascular risk.

摘要

背景

低密度脂蛋白受体(LDLR)基因中的rs688多态性与血脂谱改变有关,但其对心血管风险高至极高的患者的影响尚不清楚。

目的

研究LDLR rs688多态性与心血管风险高至极高的患者血脂异常之间的关联。

方法

这项横断面研究纳入了芹苴医科大学医院中被分类为心血管风险高或极高的患者以及匹配的对照组。使用实时荧光定量聚合酶链反应(Realtime-PCR)评估血脂谱和LDLR rs688基因分型。

结果

在80例患者中(平均年龄62.36±10.49岁;35.0%为男性),与对照组相比,CT和TT基因型更为常见(分别为37.5%对30.6%,以及15.0%对3.8%)。T等位基因也更普遍(33.8%对19.1%)。68.8%的患者存在血脂异常。与C等位基因携带者相比,T等位基因携带者的血脂异常率更高(90.7%对57.5%),低密度脂蛋白胆固醇(LDLc)更高(5.42±1.51 mmol/L对3.19±1.37 mmol/L),高密度脂蛋白胆固醇(HDLc)更低(0.70±0.25 mmol/L对1.03±0.32 mmol/L)。多变量分析确定T等位基因(比值比[OR]=14.18)和糖尿病(OR=4.85)是血脂异常的独立预测因素。

结论

LDLR rs688 T等位基因和糖尿病独立增加心血管风险高至极高的患者发生血脂异常的风险。