Serretti A, Lilli R, Di Bella D, Bertelli S, Nobile M, Novelli E, Catalano M, Smeraldi E
Department of Neuropsychiatric Sciences, Istituto Scientifico San Raffaele, University of Milan School of Medicine, Italy.
Am J Med Genet. 1999 Oct 15;88(5):486-91.
We previously reported an association between dopamine receptor D4 (DRD4) gene exon 1 variants and delusional disorder. The aim of this investigation was to study the DRD4 gene exon 1 and 3 variants in schizophrenia, delusional, bipolar, and unipolar disorders. We studied 651 inpatients affected by schizophrenia (n = 229), delusional (n = 86), bipolar (n = 210), and unipolar (n = 126) disorders (DSM III-R) and 471 healthy controls; these were typed for DRD4 variants at the first and third exon using polymerase chain reaction techniques. DRD4 variants were not associated with schizophrenic and delusional subjects even when possible confounders like gender and onset were considered. A marginal association between DRD4 exon 3 variants with unipolar (excess of DRD42/4, p = 0.004) and bipolar (excess of DRD42/4, p = 0.001) disorders was observed, both associations drop to insignificance when corrected for multiple testing. Our results exclude that coding variants of the DRD4 exon 1 and 3 may play a major role in conferring susceptibility to major psychoses; moreover, we could not replicate the association of DRD4 exon 1 variant with delusional disorder.
我们之前报道过多巴胺受体D4（DRD4）基因外显子1变异与妄想症之间的关联。本研究的目的是探究精神分裂症、妄想症、双相情感障碍和单相情感障碍中DRD4基因外显子1和3的变异情况。我们研究了651名患有精神分裂症（n = 229）、妄想症（n = 86）、双相情感障碍（n = 210）和单相情感障碍（n = 126）（DSM III-R）的住院患者以及471名健康对照者；使用聚合酶链反应技术对这些受试者的DRD4基因第一和第三外显子的变异进行分型。即使考虑了性别和起病等可能的混杂因素，DRD4变异与精神分裂症和妄想症患者也无关联。观察到DRD4外显子3变异与单相情感障碍（DRD42/4过多，p = 0.004）和双相情感障碍（DRD42/4过多，p = 0.001）之间存在边缘关联，但在进行多重检验校正后，这两种关联均无统计学意义。我们的结果排除了DRD4外显子1和3的编码变异可能在赋予主要精神疾病易感性方面起主要作用；此外，我们无法重复DRD4外显子1变异与妄想症之间的关联。
