Del Casale Antonio, Gentile Giovanna, Lardani Simone, Modesti Martina Nicole, Arena Jan Francesco, Zocchi Clarissa, De Luca Ottavia, Parmigiani Giovanna, Angeletti Gloria, Ferracuti Stefano, Preissner Robert, Simmaco Maurizio, Borro Marina, Pompili Maurizio
Department of Dynamic and Clinical Psychology and Health Studies, Faculty of Medicine and Psychology, Sapienza University of Rome, Center for Precision Medicine, Sant'Andrea University Hospital, 00189, Rome, Italy.
Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Unit of Laboratory and Advanced Molecular Diagnostics, Center for Precision Medicine, 'Sant'Andrea' University Hospital, 00189, Rome, Italy.
Eur Arch Psychiatry Clin Neurosci. 2025 Feb 12. doi: 10.1007/s00406-025-01970-9.
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.
本研究通过分析多巴胺和5-羟色胺受体中的基因标记来研究难治性精神分裂症(TRS)。该研究以221名患有难治性精神障碍的患者为队列进行,重点关注DRD2和HTR2A基因变体——具体而言,即rs1801028、rs6314、rs7997012和rs6311。研究结果表明某些基因变体与TRS之间存在特定关联。值得注意的是,与健康对照(HCs)相比,TRS患者中HTR2A rs6314 A|G基因型和rs7997012 G|G基因型的比例显著更高。单倍型分析揭示了特定单倍型(如A|G(rs6314 - rs7997012))与TRS之间的关联,表明它们对TRS与HCs具有潜在的预测价值。该研究强调了5-羟色胺能系统在TRS中的作用。这些发现为导致TRS的遗传因素提供了有价值的见解,为未来精神病学研究以及个性化预防和治疗策略的开发铺平了道路。