APOL1多态性不会影响捷克男性患急性冠状动脉综合征的风险。

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2024-08-01 DOI:10.1002/mgg3.2449

Jaroslav A Hubacek, Vera Adamkova, Vera Lanska, Vladimir Stanek, Jolana Mrazkova, Marie Gebauerova, Jiri Kettner, Josef Kautzner, Jan Pitha

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引用次数: 0

摘要

背景：全世界死亡率和发病率最高的疾病是动脉粥样硬化性心血管疾病（ASCVD），其背景是环境和遗传风险因素。载脂蛋白 L1（APOL1）的变异会影响非洲人患动脉粥样硬化性心血管疾病（ASCVD）的风险，但人们对其他种族群体的载脂蛋白 L1 和动脉粥样硬化性心血管疾病知之甚少：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 名男性对照者中的四种（rs13056427、rs136147、rs10854688 和 rs9610473）APOL1 多态性进行了基因分型：单个 APOL1 多态性与传统的心血管疾病风险因素（如吸烟、高血压或糖尿病患病率）、体重指数值或血浆脂质水平无关。在10.2 ± 3.9年的随访中，单个多态性或单倍型均与ACS风险增加无关，也不能预测总死亡率或心血管死亡率：我们得出结论：APOL1 基因变异对白种人的 ACS 风险没有重大影响。

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

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.

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.