: 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.

Investigating DRD2 and HTR2A polymorphisms in treatment-resistant schizophrenia: a comparative analysis with other treatment-resistant mental disorders and the healthy state / 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. - In: EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE. - ISSN 0940-1334. - Online ahead of print:(2025). [10.1007/s00406-025-01970-9]

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

Del Casale, Antonio;Gentile, Giovanna;Lardani, Simone;Modesti, Martina Nicole;Arena, Jan Francesco;Zocchi, Clarissa;Angeletti, Gloria;Ferracuti, Stefano;Simmaco, Maurizio;Borro, Marina;Pompili, Maurizio
2025

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.
2025
Dopamine D2 receptor; Haplotype; mental disorders; pharmacogenomics; polymorphism genetic; schizophrenia treatment-resistant; serotonin 5-HT2A Receptor
01 Pubblicazione su rivista::01a Articolo in rivista
Investigating DRD2 and HTR2A polymorphisms in treatment-resistant schizophrenia: a comparative analysis with other treatment-resistant mental disorders and the healthy state / 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. - In: EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE. - ISSN 0940-1334. - Online ahead of print:(2025). [10.1007/s00406-025-01970-9]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1733731
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