Investigating DRD2 and HTR2A polymorphisms in treatment-resistant schizophrenia: a comparative analysis with other treatment-resistant mental disorders and the healthy state.

IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY European Archives of Psychiatry and Clinical Neuroscience Pub Date : 2026-04-01 Epub Date: 2025-02-12 DOI:10.1007/s00406-025-01970-9
Antonio Del Casale, Giovanna Gentile, Simone Lardani, Martina Nicole Modesti, Jan Francesco Arena, Clarissa Zocchi, Ottavia De Luca, Giovanna Parmigiani, Gloria Angeletti, Stefano Ferracuti, Robert Preissner, Maurizio Simmaco, Marina Borro, Maurizio Pompili
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Abstract

This study investigates treatment-resistant schizophrenia (TRS) by analysing genetic markers in dopamine and serotonin receptors. Conducted on a cohort of 221 patients with treatment-resistant mental disorders, the research focused on DRD2 and HTR2A gene variants-specifically, rs1801028, rs6314, rs7997012, and rs6311. The findings suggest specific associations between certain genetic variants and TRS. Notably, the HTR2A rs6314 A|G genotype and rs7997012 G|G genotype were significantly more prevalent in TRS patients compared to healthy controls (HCs). Haplotype analyses revealed associations between specific haplotypes-such as A|G (rs6314-rs7997012)-and TRS, indicating their potential predictive value for TRS versus HCs. The study underscores the involvement of the serotonergic system in TRS. These findings offer valuable insights into the genetic factors contributing to TRS, paving the way for future research and the development of personalised prevention and treatment strategies in psychiatry.

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研究难治性精神分裂症中DRD2和HTR2A多态性:与其他难治性精神障碍和健康状态的比较分析
本研究通过分析多巴胺和血清素受体的遗传标记来研究治疗抵抗性精神分裂症(TRS)。该研究对221名难治性精神障碍患者进行了队列研究,研究重点是DRD2和HTR2A基因变异,特别是rs1801028、rs6314、rs7997012和rs6311。研究结果表明,某些基因变异与TRS之间存在特定关联。值得注意的是,与健康对照(hc)相比,HTR2A rs6314 A|G基因型和rs7997012 G|G基因型在TRS患者中更为普遍。单倍型分析揭示了特定单倍型(如A b| G (rs6314-rs7997012))与TRS之间的关联,表明它们对TRS与hcc的潜在预测价值。这项研究强调了血清素能系统在TRS中的作用。这些发现对导致TRS的遗传因素提供了有价值的见解,为未来的研究和精神病学个性化预防和治疗策略的发展铺平了道路。
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来源期刊
CiteScore
8.80
自引率
4.30%
发文量
154
审稿时长
6-12 weeks
期刊介绍: The original papers published in the European Archives of Psychiatry and Clinical Neuroscience deal with all aspects of psychiatry and related clinical neuroscience. Clinical psychiatry, psychopathology, epidemiology as well as brain imaging, neuropathological, neurophysiological, neurochemical and moleculargenetic studies of psychiatric disorders are among the topics covered. Thus both the clinician and the neuroscientist are provided with a handy source of information on important scientific developments.
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