哈萨克人群抗精神病药物药代动力学等位基因群体特征及基因型多态性遗传标记频率分布

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2022-05-16 DOI:10.1002/ajmg.b.32893
Korlan Z. Saduakassova, Gulnara S. Svyatova
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引用次数: 2

摘要

这篇文章是相关的,因为精神分裂症治疗的主要目标是实现对精神药物治疗的反应,减少和稳定精神病理症状,定性缓解,这通常意味着为患者创造稳定的生活质量。该研究的目的是根据药代动力学相关抗精神病药物的全基因组关联研究分析,在种族同质的哈萨克人群中评估等位基因频率分布和多态性遗传变异的种群特征。研究材料为哈萨克族1800例有条件健康人外周血中分离的脱氧核糖核酸(DNA)。采用磁性聚乙烯醇磁颗粒分离法分离DNA。研究基因型在哈萨克人群中的频率分布分析显示,所有研究多态性均符合Hardy-Weinberg平衡(p > 0.05)。研究结果显示,CYP2C19 (rs4244285, rs4986893)多态性在哈萨克人群中的发生率明显高于欧洲和一些亚洲人群,这显著影响了哈萨克人群抗精神病药物治疗有效性的降低和副作用风险的增加。
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Population features of alleles and genotypes frequency distribution of polymorphic genetic markers of antipsychotic medications pharmacokinetics in the Kazakh population

The presented article is relevant, as the main goals of schizophrenia treatment are to achieve a response to psychopharmacotherapy, reduction and stabilization of psychopathological symptoms, qualitative remission, which in general implies the creation of a stable quality of life for the patient. The purpose of the study was to evaluate the population features of the frequency distribution of alleles and genotypes of polymorphic genetic variants of according to genome-wide association studies analysis of pharmacokinetics-associated antipsychotic medications, in an ethnically homogeneous Kazakh population. The research material was deoxyribonucleic acid (DNA) isolated from the peripheral blood of 1,800 conditionally healthy persons of Kazakh nationality. DNA isolation was carried out by the magnetic polyvinyl alcohol magnetic particle separation method. The analysis of the frequency distribution of the studied genotypes in the Kazakh population showed their compliance with the Hardy–Weinberg equilibrium for all studied polymorphisms (p > .05). The obtained results showed that CYP2C19 (rs4244285, rs4986893) polymorphisms occurs in Kazakhs significantly more often than European and a number of Asian populations, which significantly affects the decrease in effectiveness and increases the risk of side complications during therapy with antipsychotic medications in the Kazakh population.

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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
期刊最新文献
Issue Information - TOC Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk-Locus Xq28,distal. Optimizing the Prediction of Depression Remission: A Longitudinal Machine Learning Approach. New Insights Into TRMT10A Syndrome: Case Report and Literature Review. Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
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