Dmitrzak-Weglarz Monika, Rybakowski Janusz K, Slopien Agnieszka, Czerski Piotr M, Leszczynska-Rodziewicz Anna, Kapelski Pawel, Kaczmarkiewicz-Fass Magdalena, Hauser Joanna
Laboratory of Psychiatric Genetics, Department of Psychiatry, Poznan University of Medical Sciences, Poznan, Poland.
Neuropsychobiology. 2006;53(1):46-50. doi: 10.1159/000090703. Epub 2006 Jan 4.
Dysregulation of dopaminergic neurotransmission has been implicated in the etiology of major psychoses. The dopamine D(1) receptor (DRD1) plays a role in some brain functions and mechanisms of psychotropic drugs. Therefore, the DRD1 gene makes a good candidate gene for molecular genetic studies in schizophrenia and bipolar affective disorder. In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizophrenia (n=407) or bipolar affective disorder (n=380), and in healthy controls (n=399). No association was found between the polymorphism studied and schizophrenia, either in the whole group of patients or in subgroups divided by gender, age at onset or predominance of positive or negative symptoms. A statistical trend was obtained for an association between this polymorphism and bipolar affective disorder (p=0.059 for genotypes, p=0.073 for alleles). The G/G genotype and G allele were significantly more frequent in patients with bipolar disorder, type II (p=0.016 for genotypes, p=0.008 for alleles), especially in the women subgroup (p=0.054 for genotypes, p=0.024 for alleles). An association between the G/G genotype and bipolar affective disorder with disease onset after 18 years of age was also found (p=0.022). These data suggest that the -48A/G polymorphism of the DRD1 gene may be involved in the etiology of bipolar disorder in a Polish population.
多巴胺能神经传递的失调与主要精神疾病的病因有关。多巴胺D(1)受体（DRD1）在某些脑功能和精神药物作用机制中发挥作用。因此，DRD1基因是精神分裂症和双相情感障碍分子遗传学研究的良好候选基因。在本研究中，对407例精神分裂症患者、380例双相情感障碍患者和399例健康对照者进行了DRD1基因 -48A/G多态性评估。在所研究的多态性与精神分裂症之间未发现关联，无论是在整个患者组中，还是在按性别、发病年龄或阳性或阴性症状优势划分的亚组中。该多态性与双相情感障碍之间获得了统计学趋势（基因型p = 0.059，等位基因p = 0.073）。G/G基因型和G等位基因在II型双相情感障碍患者中显著更常见（基因型p = 0.016，等位基因p = 0.008），尤其是在女性亚组中（基因型p = 0.054，等位基因p = 0.024）。还发现G/G基因型与18岁后发病的双相情感障碍之间存在关联（p = 0.022）。这些数据表明，DRD1基因的 -48A/G多态性可能参与了波兰人群双相情感障碍的病因。
