载脂蛋白基因 3 多态性与心血管疾病患者高密度脂蛋白胆固醇摄取能力的相关性研究。

Association of ANGPTL3 polymorphisms with high-density lipoprotein cholesterol uptake capacity in patients with cardiovascular disease.

机构信息

Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, Iran.

Student Research Committee, Department of Molecular Medicine, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran.

出版信息

J Clin Lab Anal. 2021 Dec;35(12):e23980. doi: 10.1002/jcla.23980. Epub 2021 Oct 24.

DOI:10.1002/jcla.23980

PMID:34689370

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8649373/

Abstract

INTRODUCTION

Previous studies have shown the importance of angiopoietin-like 3 (ANGPTL3) as a modulator of lipid profiles. Cholesterol uptake capacity (CUC) is one means for assessing high-density lipoprotein (HDL) functionality. This study for the first time has investigated the relationship between genetic ANGPTL3 polymorphism and CUC in patients with cardiovascular disease.

METHODS

Five hundred three subjects comprising 350 healthy subjects and 153 individuals who developed a cardiovascular disease (CVD) event during follow-up were recruited as part of the Mashhad Stroke and Heart Atherosclerotic Disorder (MASHAD) cohort study. A modified CUC method was used to determine the CUC of serum samples. Applied amplification refractory mutation system PCR was performed for ANGPTL3 variants genotyping including: rs10789117, rs1748195, and rs11207997. Sanger sequencing was applied to confirm the genotypes.

RESULTS

The results showed that there was a significant relationship between the rs1748195 genotypes and HDL concentration in the CVD group (p = 0.02). Moreover, individuals with a GG genotype of the rs1748195 were associated with a lower risk of CVD (OR = 0.49, 95% CI = 0.24-0.98, p = 0.04) compared with CC genotype in the CUC ≤ 1.7 a.u subgroup. Moreover, the CT genotype of rs11207997 was associated with a lower risk of CVD (OR = 0.74, 95% CI = 0.41-1.3, p = 0.01) compared with CC genotype in CUC > 1.7 a.u subgroup.

CONCLUSION

The results showed that the CT genotype of the rs11207997 variant was associated with a lower risk of incident CVD in patients with higher HDL functionality. As well, the rs1748195 gene variant may contribute to a reduced risk of CVD.

摘要

简介

先前的研究表明，血管生成素样蛋白 3（ANGPTL3）作为脂质谱调节剂的重要性。胆固醇摄取能力（CUC）是评估高密度脂蛋白（HDL）功能的一种手段。本研究首次探讨了心血管疾病患者中 ANGPTL3 遗传多态性与 CUC 的关系。

方法

本研究共纳入 503 名受试者，其中 350 名健康受试者和 153 名在随访期间发生心血管疾病（CVD）事件的个体作为马什哈德卒中与心脏动脉粥样硬化疾病（MASHAD）队列研究的一部分。采用改良的 CUC 法测定血清样本的 CUC。应用扩增受阻突变系统 PCR 对 ANGPTL3 变体进行基因分型，包括 rs10789117、rs1748195 和 rs11207997。应用 Sanger 测序法对基因型进行验证。

结果

结果显示，rs1748195 基因型与 CVD 组的 HDL 浓度之间存在显著关系（p=0.02）。此外，在 CUC≤1.7 a.u 亚组中，与 CC 基因型相比，rs1748195 基因型 GG 的个体发生 CVD 的风险较低（OR=0.49，95%CI=0.24-0.98，p=0.04）。此外，在 CUC＞1.7 a.u 亚组中，与 CC 基因型相比，rs11207997 的 CT 基因型与 CVD 风险较低相关（OR=0.74，95%CI=0.41-1.3，p=0.01）。