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2
Polymorphism of rs12294045 in EAAT2 gene is potentially associated with schizophrenia in Chinese Han population.EAAT2 基因 rs12294045 多态性与中国汉族人群精神分裂症发病相关。
BMC Psychiatry. 2022 Mar 8;22(1):171. doi: 10.1186/s12888-022-03799-1.
3
A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.抗精神病药物治疗抵抗性精神分裂症患者 GAD1 和 GABAB 受体基因的初步遗传关联研究。
Mol Biol Rep. 2022 Mar;49(3):2015-2024. doi: 10.1007/s11033-021-07019-z. Epub 2021 Nov 29.
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Excitatory amino acid transporter (EAAT)1 and EAAT2 mRNA levels are altered in the prefrontal cortex of subjects with schizophrenia.精神分裂症患者前额叶皮质中兴奋性氨基酸转运体（EAAT）1和EAAT2的mRNA水平发生改变。
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The GRM7 gene, early response to risperidone, and schizophrenia: a genome-wide association study and a confirmatory pharmacogenetic analysis.GRM7基因、对利培酮的早期反应与精神分裂症：一项全基因组关联研究及验证性药物遗传学分析
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谷氨酸神经传递基因对抗精神病药物治疗结果的影响。

Influence of Glutamate Neurotransmission Genes on the Outcomes of Antipsychotic Treatments.

作者信息

Cendrós Marc, Catalán Rosa, Torra Mercè, Penadés Rafael, González-Rodríguez Alexandre, Brunet Mercè, Perez-Blanco Josefina, Cullell Natalia, Serra-Llovich Alexandre, Hernandez Marta H, Arranz María J

机构信息

Eugenomic S.L., Barcelona, Spain.

Fundació Docència i Recerca Mútua Terrassa Terrassa, Spain.

出版信息

Pharmacopsychiatry. 2025 Sep;58(5):205-215. doi: 10.1055/a-2603-0871. Epub 2025 Jun 17.

DOI:10.1055/a-2603-0871
PMID:40527340
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12404797/
Abstract

Traditionally, the aetiology of schizophrenia has been attributed to dopaminergic neurotransmission, but more recent information points to the role of glutamate pathways. Glutamatergic involvement in schizophrenia might be extensible to drug response. The aim of the study was to explore whether the variation in glutamate receptors, transporters and metabolism can influence the outcome of drug treatments.A total of 45 polymorphisms in the genes GRIN1, GRIN2A, GRIN2B, GRIN3A, GRIA1, GRIK2, GRM2, GRM3, GRM5, GRM8, SLC1A1, SLC1A3 and GAD1 were genotyped in 258 patients with schizophrenia. Efficacy and side effects were evaluated with the Positive and Negative Symptoms Scale and the UKU scale, respectively, at baseline and after 12 weeks.The analysis revealed associations between outcomes, including response and adverse effects and genetic variants in several genes (GAD1, GRIA1, GRIN2A, GRIN3A, GRIK2, GRM2, GRM5, GRM8 and SLC1A3). An association of rs1864205 in GRIA1 with autonomic side effects bordered statistical significance after correction for multiple comparisons.Our results suggest that genetic variation in glutamatergic pathways can influence the efficacy and safety of antipsychotic drugs.

摘要

传统上，精神分裂症的病因一直被归因于多巴胺能神经传递，但最新信息表明谷氨酸能通路发挥了作用。谷氨酸能在精神分裂症中的作用可能与药物反应有关。本研究的目的是探讨谷氨酸受体、转运体和代谢的变化是否会影响药物治疗的效果。对258例精神分裂症患者的GRIN1、GRIN2A、GRIN2B、GRIN3A、GRIA1、GRIK2、GRM2、GRM3、GRM5、GRM8、SLC1A1、SLC1A3和GAD1基因中的45个多态性进行了基因分型。分别在基线和12周后，用阳性和阴性症状量表及UKU量表评估疗效和副作用。分析揭示了包括反应和不良反应在内的结果与几个基因（GAD1、GRIA1、GRIN2A、GRIN3A、GRIK2、GRM2、GRM5、GRM8和SLC1A3）中的基因变异之间存在关联。在进行多重比较校正后，GRIA1基因中的rs1864205与自主神经副作用的关联接近统计学显著性。我们的结果表明，谷氨酸能通路的基因变异会影响抗精神病药物的疗效和安全性。