氯氮平诱发代谢综合征的药物遗传因素

A. K. Khasanova
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(2) Purpose: The aim of this study was to identify relevant single nucleotide polymorphisms (SNPs) of candidate genes for clozapine-induced MS, because based on these data, a genetic risk panel can be constructed to assess the likelihood of developing clozapine-induced MS in patients with schizophrenia. (3) Materials and Methods: We searched for full-text publications in PubMed, Web of Science, Springer, Google Scholar, and electronic libraries in English and Russian, available from inception to 30 October 2023. Keywords were the following: metabolic disturbances, clozapine, metabolic syndrome, schizophrenia, genes, adverse drug reactions, antipsychotics, pharmacogenetics, genetic biomarker, single nucleotide variant, polymorphism, association, variation, and metabolic syndrome genes. 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引用次数: 0

摘要

(1) 引言:尽管采用了现代疗法,但仍有约 20%-30% 的精神分裂症患者对精神药物治疗产生耐药性。氯氮平是唯一被证实对精神分裂症耐药性(TRS)有疗效的抗精神病药物。服用氯氮平期间最常见的药物不良反应(ADR)是代谢紊乱,尤其是代谢综合征(MS)。由于代谢综合征导致心血管疾病死亡率增加两倍,各种原因导致的死亡率增加 1.5 倍,而氯氮平往往是治疗 TRS 的唯一选择,因此监测和管理代谢异常至关重要。氯氮平诱发多发性硬化症的个体间差异很大,这表明遗传因素可能起着重要作用。(2)目的:本研究旨在确定氯氮平诱导的多发性硬化症候选基因的相关单核苷酸多态性(SNPs),因为根据这些数据可以构建一个遗传风险面板,以评估精神分裂症患者发生氯氮平诱导的多发性硬化症的可能性。(3)材料与方法:我们在 PubMed、Web of Science、Springer、Google Scholar 和电子图书馆中搜索了从开始到 2023 年 10 月 30 日的英文和俄文全文出版物。关键词如下:代谢紊乱、氯氮平、代谢综合征、精神分裂症、基因、药物不良反应、抗精神病药物、药物遗传学、遗传生物标志物、单核苷酸变异、多态性、关联、变异、代谢综合征基因。(4)结果:我们纳入了 6 项自然横断面开放标签试验,纳入了接受第一代和第二代抗精神病药物治疗的精神分裂症、情感分裂症、精神分裂症或精神病性障碍患者,其中还有氯氮平,以及 1 项综述精神分裂症患者 HTR2C 基因多态性与抗精神病药物诱发多发性硬化症相关性的荟萃分析。根据我们的范围综述结果,所研究的候选基因中与氯氮平诱发多发性硬化症相关的 SNPs 如下:1)CYP1A2 基因:rs762551 的基因型为 AA(NG_008431.2:g.32035C>A);2)CYP2C19 基因:CYP2C19*2多态性;3)HTR2C基因:rs518147的基因型CC(NM_000868.2:c.-697G>C)、rs1414334的小等位基因C(NG_012082.3:g.324497C>G)、rs518147的基因型CC(NM_000868.2:c.-697G>C),rs12836771(NG_012082.3:g.71829A>G)的基因型为 GG;4)LEP 基因:rs7799039(NG_044977.1:g.475G>A)的基因型为 AG 和 GG;5)LEPR 基因:rs1137101(NG_015831.2:g.177266A>G)的基因型为 AG 和 GG。(4)结论:揭示氯氮平诱导多发性硬化症的基因生物标志物可能为在实际临床实践中制定个性化预防和治疗精神分裂症谱系障碍患者氯氮平的这种 ADRs 的策略提供了一把钥匙。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pharmacogenetic Factors of Clozapine-Induced Metabolic Syndrome
(1) Introduction: Despite modern therapies, approximately 20-30% of patients with schizophrenia remain resistant to psychopharmacotherapy. Clozapine is the only antipsychotic with proven efficacy for treatment resistance in schizophrenia (TRS). The most common adverse drug reaction (ADR) during clozapine administration are metabolic disturbances, particularly metabolic syndrome (MS). Because MS leads to a twofold increase in mortality from cardiovascular disease and a 1.5-fold increase in mortality from all causes, and clozapine is often the only treatment option for TRS, it is critical to monitor and management metabolic abnormalities. The high interindividual differences in the development of clozapine-induced MS suggest that genetic factors may play an important role. (2) Purpose: The aim of this study was to identify relevant single nucleotide polymorphisms (SNPs) of candidate genes for clozapine-induced MS, because based on these data, a genetic risk panel can be constructed to assess the likelihood of developing clozapine-induced MS in patients with schizophrenia. (3) Materials and Methods: We searched for full-text publications in PubMed, Web of Science, Springer, Google Scholar, and electronic libraries in English and Russian, available from inception to 30 October 2023. Keywords were the following: metabolic disturbances, clozapine, metabolic syndrome, schizophrenia, genes, adverse drug reactions, antipsychotics, pharmacogenetics, genetic biomarker, single nucleotide variant, polymorphism, association, variation, and metabolic syndrome genes. (4) Results: we included 6 naturalistic cross-sectional open-label trials, included patients with schizophrenia, schizoaffective, schizophreniform disorder or psychotic disorder, who were treated with first and second generations antipsychotics, among which there was also clozapine and 1 meta-analysis which reviewed association between HTR2C gene polymorphisms and anti-psychotic-induced MS in schizophrenia patients. According to the results of our scoping review the carriage of SNPs in the studied candidate genes associated with clozapine-induced MS are the following: 1) CYP1A2 gene: genotype AA of rs762551 (NG_008431.2:g.32035C>A); 2) CYP2C19 gene: CYP2C19*2 polymorphism; 3) HTR2C gene: genotype CC of rs518147 (NM_000868.2:c.-697G>C), minor allele C of rs1414334 (NG_012082.3:g.324497C>G), genotype CC of rs518147 (NM_000868.2:c.-697G>C), genotype GG of rs12836771 (NG_012082.3:g.71829A>G); 4) LEP gene: genotypes AG and GG of rs7799039 (NG_044977.1:g.475G>A); 5) LEPR gene: genotypes AG and GG of rs1137101 (NG_015831.2:g.177266A>G). (4) Conclusions: Uncovering the genetic biomarkers of clozapine-induced MS may provide a key to developing a strategy for the personalized prevention and treatment of this ADRs of clozapine in patients with schizophrenia spectrum disorders in real clinical practice.
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