Serretti A, Lattuada E, Cusin C, Lilli R, Lorenzi C, Smeraldi E
Department of Neuropsychiatric Sciences, Instituto Scientifico H San Raffaele, University of Milan School of Medicine, Italy.
Am J Med Genet. 1999 Oct 15;88(5):476-80.
Dopamine D3 receptor gene (DRD3) variants have been implicated in the pathogenesis of psychiatric disorders. Many studies, however, have failed to replicate the association of DRD3 with schizophrenia. A possible reason for this may lie in the definition of phenotype, which is traditionally based on psychiatric diagnosis. In this study we investigated the possibility that variants of the DRD3 gene might be associated with symptomatology in a sample of subjects affected by major psychoses. Two hundred and eleven inpatients affected by major psychoses were assessed by the Operational Criteria Checklist for Psychotic Illness (OPCRIT) and were also typed for the DRD3 variants using polymerase chain reaction techniques. Mania, depression, delusion, and disorganization were the four symptomatologic factors used as phenotype definitions. DRD3 variants were not associated with these symptomatologic factors, and consideration of possible stratification effects, such as sex and psychiatric diagnosis, did not reveal any association either.
多巴胺D3受体基因（DRD3）变异与精神疾病的发病机制有关。然而，许多研究未能重复DRD3与精神分裂症之间的关联。造成这种情况的一个可能原因可能在于表型的定义，传统上它是基于精神科诊断的。在本研究中，我们调查了DRD3基因变异可能与受重度精神病影响的受试者样本中的症状学相关的可能性。使用精神病性疾病操作标准检查表（OPCRIT）对211名受重度精神病影响的住院患者进行了评估，并使用聚合酶链反应技术对DRD3变异进行了分型。躁狂、抑郁、妄想和紊乱是用作表型定义的四个症状学因素。DRD3变异与这些症状学因素无关，对可能的分层效应（如性别和精神科诊断）的考量也未发现任何关联。
