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Population features of alleles and genotypes frequency distribution of polymorphic genetic markers of antipsychotic medications pharmacokinetics in the Kazakh population
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2022-05-16 , DOI: 10.1002/ajmg.b.32893
Korlan Z. Saduakassova 1 , Gulnara S. Svyatova 2
Affiliation  

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.

中文翻译:

哈萨克人群抗精神病药物药代动力学多态性遗传标志物等位基因和基因型频率分布的人群特征

本文是相关的,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、精神病理学症状的减少和稳定、质量缓解,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全基因组关联研究分析药代动力学相关的抗精神病药物,在种族同质的哈萨克人群中评估等位基因的频率分布和多态性遗传变异的基因型的人口特征。研究材料是从 1,800 名条件健康的哈萨克族人的外周血中分离出的脱氧核糖核酸 (DNA)。DNA分离采用磁性聚乙烯醇磁性颗粒分离法。对哈萨克斯坦人群中所研究基因型的频率分布的分析表明,对于所有研究的多态性,它们都符合 Hardy-Weinberg 平衡。p  > .05)。获得的结果表明,CYP2C19 (rs4244285, rs4986893) 多态性在哈萨克人中发生的频率明显高于欧洲和许多亚洲人群,这显着影响了在哈萨克人群中使用抗精神病药物治疗期间的有效性下降并增加了副作用的风险.
更新日期:2022-05-16
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