Candidate Genes for Prediction of Efficacy and Safety of Statin Therapy in the Kazakh Population.

IF 1 4区 医学 Q4 GENETICS & HEREDITY Twin Research and Human Genetics Pub Date : 2023-07-25 DOI:10.1017/thg.2023.28
Raikhan Y Tuleutayeva, Assem R Makhatova, Saule O Rakhyzhanova, Lashyn K Zhazykbayeva, Dana K Kozhakhmetova
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Abstract

The purpose of this research was to determine the frequency of mutation of the cytochrome CYP3A5 genes and transport proteins SLCO1B1 and MDR1 in patients with coronary heart disease in the Kazakh nation. A prospective cohort clinical and genetic study was conducted. The study was conducted in 2017-2019. Medical records containing information about drug prescription conducted in hospitals and outpatient departments were carefully analyzed. In the examined group of 178 patients treated with statins, a significant frequency of genetic variants that determine the increased risk of complications of statin use was revealed. There was a tendency toward an increase in the activity of creatine phosphokinase (CPK) in the blood upon detection of the A6986G mutation of the cytochrome gene and SLCO1B1 (c.521T>C) gene of the transport protein OATP1B1. In the studied Kazakh population, the presence of a homozygous mutant SLCO1B1 gene of the transport protein can be recommended as a genetic marker for the undesirability of using antihypercholesterolemic therapy with statins, which simultaneously leads to a decrease in the effectiveness of treatment and an increase in the risk of side effects.

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预测他汀类药物治疗在哈萨克人群中的有效性和安全性的候选基因。
本研究的目的是确定哈萨克民族冠心病患者细胞色素CYP3A5基因和转运蛋白SLCO1B1和MDR1的突变频率。进行了一项前瞻性队列临床和遗传研究。该研究于2017-2019年进行。对医院和门诊的病历进行了详细的分析。在接受他汀类药物治疗的178名患者中,基因变异的显著频率决定了他汀类药物使用并发症的风险增加。检测细胞色素基因A6986G突变和转运蛋白OATP1B1的SLCO1B1 (C . 521t >C)基因突变后,血液中肌酸磷酸激酶(CPK)活性有升高的趋势。在研究的哈萨克斯坦人群中,转运蛋白的纯合突变基因SLCO1B1的存在可以作为不希望使用他汀类药物抗高胆固醇治疗的遗传标记,这同时导致治疗有效性的降低和副作用风险的增加。
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来源期刊
Twin Research and Human Genetics
Twin Research and Human Genetics 医学-妇产科学
CiteScore
1.50
自引率
11.10%
发文量
37
审稿时长
6-12 weeks
期刊介绍: Twin Research and Human Genetics is the official journal of the International Society for Twin Studies. Twin Research and Human Genetics covers all areas of human genetics with an emphasis on twin studies, genetic epidemiology, psychiatric and behavioral genetics, and research on multiple births in the fields of epidemiology, genetics, endocrinology, fetal pathology, obstetrics and pediatrics. Through Twin Research and Human Genetics the society aims to publish the latest research developments in twin studies throughout the world.
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