Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, PR China.
Psychiatry Res. 2010 May 30;177(3):350-3. doi: 10.1016/j.psychres.2009.12.011. Epub 2010 Apr 10.
Decreased dopaminergic activity in the prefrontal cortex (PFC) has been consistently reported in schizophrenia patients. The dopamine D1 receptor (DRD1) plays an important role in mediating dopaminergic transmission in the PFC. Controversy about this topic still exists despite ample evidence suggesting that the DRD1 gene is associated with performance on neuropsychological tests probing the function of the PFC in schizophrenia, as well as positive and negative symptoms and therapeutic response to antipsychotics. To determine whether this gene is involved in the etiology of schizophrenia, we undertook a case-control study to look for an association. We genotyped five single nucleotide polymorphisms (SNPs) rs4532, rs5326, rs2168631, rs6882300 and rs267418 within the DRD1 involving 373 schizophrenia patients with early age of onset and 379 healthy subjects. No significant differences of genotype, allele or haplotype distribution were identified between patients and controls. Our results do not preclude a possible role of DRD1 in the etiology of schizophrenia. As an important dopaminergic gene, DRD1 may contribute to schizophrenia by interacting with other genes. Further relevant studies are warranted.
前额叶皮层(PFC)中的多巴胺能活动减少在精神分裂症患者中得到了一致的报道。多巴胺 D1 受体(DRD1)在介导 PFC 中的多巴胺能传递中起着重要作用。尽管有大量证据表明 DRD1 基因与精神分裂症患者 PFC 功能的神经心理学测试表现、阳性和阴性症状以及抗精神病药物治疗反应有关,但关于这一主题仍存在争议。为了确定该基因是否与精神分裂症的病因有关,我们进行了一项病例对照研究以寻找关联。我们对 373 名早发性精神分裂症患者和 379 名健康对照者的 DRD1 基因内的五个单核苷酸多态性(SNP)rs4532、rs5326、rs2168631、rs6882300 和 rs267418 进行了基因分型。在患者和对照组之间未发现基因型、等位基因或单倍型分布的显著差异。我们的结果并不排除 DRD1 可能在精神分裂症的病因中发挥作用。作为一种重要的多巴胺能基因,DRD1 可能通过与其他基因相互作用而导致精神分裂症。需要进一步的相关研究。