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本文引用的文献

1
Cholesterol associated genetic risk score and acute coronary syndrome in Czech males.胆固醇相关遗传风险评分与捷克男性急性冠脉综合征
Mol Biol Rep. 2024 Jan 22;51(1):164. doi: 10.1007/s11033-023-09128-3.
2
Apolipoprotein L1 variability is associated with increased risk of renal failure in the Czech population.载脂蛋白 L1 多态性与捷克人群肾衰竭风险增加相关。
Gene. 2022 Apr 15;818:146248. doi: 10.1016/j.gene.2022.146248. Epub 2022 Jan 24.
3
APOL1 renal risk variants are associated with obesity and body composition in African ancestry adults: An observational genotype-phenotype association study.APOL1 肾脏风险变异与非裔成年人的肥胖和身体成分有关:一项观察性的基因型-表型关联研究。
Medicine (Baltimore). 2021 Nov 12;100(45):e27785. doi: 10.1097/MD.0000000000027785.
4
Coronary Artery Disease Genetics Enlightened by Genome-Wide Association Studies.全基因组关联研究对冠状动脉疾病遗传学的启示
JACC Basic Transl Sci. 2021 Jul 26;6(7):610-623. doi: 10.1016/j.jacbts.2021.04.001. eCollection 2021 Jul.
5
Genetics of Cardiovascular Disease: How Far Are We from Personalized CVD Risk Prediction and Management?心血管疾病的遗传学:我们距离个性化 CVD 风险预测和管理还有多远?
Int J Mol Sci. 2021 Apr 17;22(8):4182. doi: 10.3390/ijms22084182.
6
Genetics of Familial Hypercholesterolemia: New Insights.家族性高胆固醇血症的遗传学:新见解
Front Genet. 2020 Oct 7;11:574474. doi: 10.3389/fgene.2020.574474. eCollection 2020.
7
APOL1 renal risk variants promote cholesterol accumulation in tissues and cultured macrophages from APOL1 transgenic mice.APOL1 肾风险变异体促进 APOL1 转基因小鼠组织和培养巨噬细胞中的胆固醇积累。
PLoS One. 2019 Apr 18;14(4):e0211559. doi: 10.1371/journal.pone.0211559. eCollection 2019.
8
Clinical Genetic Testing for APOL1: Are we There Yet?APOL1 临床基因检测:我们准备好了吗?
Semin Nephrol. 2017 Nov;37(6):552-557. doi: 10.1016/j.semnephrol.2017.07.009.
9
The Expanding Role of APOL1 Risk in Chronic Kidney Disease and Cardiovascular Disease.APOL1 风险在慢性肾脏病和心血管疾病中的作用不断扩大。
Semin Nephrol. 2017 Nov;37(6):520-529. doi: 10.1016/j.semnephrol.2017.07.005.
10
A Brief History of APOL1: A Gene Evolving.APOL1 基因的演化简史
Semin Nephrol. 2017 Nov;37(6):508-513. doi: 10.1016/j.semnephrol.2017.07.003.

APOL1 多态性不会影响捷克男性急性冠状动脉综合征的风险。

APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males.

机构信息

Experimental Medicine Centre, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

3rd Department of Internal Medicine, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.

出版信息

Mol Genet Genomic Med. 2024 Aug;12(8):e2449. doi: 10.1002/mgg3.2449.

DOI:10.1002/mgg3.2449
PMID:39171649
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11339648/
Abstract

BACKGROUND

The highest mortality and morbidity worldwide is associated with atherosclerotic cardiovascular disease (ASCVD), which has in background both environmental and genetic risk factors. Apolipoprotein L1 (APOL1) variability influences the risk of ASCVD in Africans, but little is known about the APOL1 and ASCVD in other ethnic groups.

METHODS

To investigate the role of APOL1 and ASCVD, we have genotyped four (rs13056427, rs136147, rs10854688 and rs9610473) APOL1 polymorphisms in a group of 1541 male patients with acute coronary syndrome (ACS) and 1338 male controls.

RESULTS

Individual APOL1 polymorphisms were not associated with traditional CVD risk factors such as smoking, hypertension or diabetes prevalence, with BMI values or plasma lipid levels. Neither individual polymorphisms nor haplotypes were associated with an increased risk of ACS nor did they predict total or cardiovascular mortality over the 10.2 ± 3.9 years of follow-up.

CONCLUSIONS

We conclude that APOL1 genetic variability has no major effect on risk of ACS in Caucasians.

摘要

背景

全球范围内,死亡率和发病率最高的疾病与动脉粥样硬化性心血管疾病(ASCVD)有关,其发生既与环境危险因素有关,也与遗传危险因素有关。载脂蛋白 L1(APOL1)的变异性会影响非洲人患 ASCVD 的风险,但人们对其他种族的 APOL1 和 ASCVD 知之甚少。

方法

为了研究 APOL1 和 ASCVD 的作用,我们对 1541 名急性冠状动脉综合征(ACS)男性患者和 1338 名男性对照者的 4 个(rs13056427、rs136147、rs10854688 和 rs9610473)APOL1 多态性进行了基因分型。

结果

单个 APOL1 多态性与传统 CVD 危险因素(如吸烟、高血压或糖尿病患病率、BMI 值或血浆脂质水平)无关。个体多态性或单倍型均与 ACS 风险增加无关,在 10.2±3.9 年的随访期间,也未预测总死亡率或心血管死亡率。

结论

我们得出结论,APOL1 遗传变异对白人 ACS 风险没有重大影响。