Ambrósio Alda M, Kennedy James L, Macciardi Fabio, Macedo António, Valente José, Dourado Ana, Oliveira Catarina R, Pato Carlos
Department of Neurochemistry, Faculty of Medicine, Center for Neuroscience of Coimbra, University of Coimbra, 3004-517 Coimbra, Portugal.
Psychiatry Res. 2004 Mar 15;125(3):185-91. doi: 10.1016/j.psychres.2003.12.016.
Schizophrenia is a highly heritable condition, as demonstrated in family, twin and adoption studies. Candidate genes from the dopaminergic system have long been hypothesized to be involved in the etiology of this disorder. In the present study, we investigated the genetic association between polymorphisms in the D2 and D3 dopamine receptor (DRD2, DRD3) genes and schizophrenia. We examined 90 trios from Portugal, and negative results were obtained from association studies with both Haplotype Relative Risk (HRR) and Transmission Disequilibrium Test (TDT), as well as TRANSMIT. Therefore, we conclude that neither the DRD2 nor the DRD3 gene polymorphisms investigated are associated with schizophrenia in our sample.
精神分裂症是一种高度可遗传的疾病，这在家族、双胞胎和收养研究中得到了证实。长期以来，人们一直假设多巴胺能系统中的候选基因与这种疾病的病因有关。在本研究中，我们调查了多巴胺D2和D3受体（DRD2、DRD3）基因多态性与精神分裂症之间的遗传关联。我们检测了来自葡萄牙的90个三联体，通过单倍型相对风险（HRR）、传递不平衡检验（TDT）以及TRANSMIT进行关联研究，均得到了阴性结果。因此，我们得出结论，在我们的样本中，所研究的DRD2和DRD3基因多态性均与精神分裂症无关。
