Persico A M, Macciardi F
Department of Neuropsychiatric Sciences, S. Raffaele Hospital, Milan, Italy.
Am J Med Genet. 1997 Feb 21;74(1):53-7. doi: 10.1002/(sici)1096-8628(19970221)74:1<53::aid-ajmg12>3.0.co;2-q.
Dopamine transporter (DAT) gene variants do not appear to provide widespread contributions to the etiology of schizophrenia spectrum disorders, according to linkage studies [Persico et al., 1995: Am J Psychiatry 152:134-136]. They may, however, produce modifying effects, more readily detectable in specific subpopulations of schizophrenics through associations analyses. We therefore compared polymorphic DAT gene variable number tandem repeat (VNTR) distributions in 84 controls and 147 patients, divided according to DSM-IIIR schizophrenia type criteria. No evidence of allelic association between DAT alleles and schizophrenia or any specific schizophrenia subtype was found. Interestingly, the DAT genotype distribution among schizophrenic patients did display a statistically significant departure from the genotype distribution found in controls. Such discrepancies may represent stigmata of assortative mating or may suggest a "modifying" contribution of homozygote DAT genotypes to pathogenetic processes underlying schizophrenia.
根据连锁研究[佩尔西科等人，1995年：《美国精神病学杂志》152:134 - 136]，多巴胺转运体（DAT）基因变异似乎并未对精神分裂症谱系障碍的病因产生广泛影响。然而，它们可能会产生修饰作用，通过关联分析在精神分裂症患者的特定亚群中更容易检测到。因此，我们比较了84名对照者和147名患者中多态性DAT基因可变数目串联重复序列（VNTR）的分布情况，这些患者是根据《精神疾病诊断与统计手册》第三版修订本（DSM-IIIR）精神分裂症类型标准划分的。未发现DAT等位基因与精神分裂症或任何特定精神分裂症亚型之间存在等位基因关联的证据。有趣的是，精神分裂症患者中的DAT基因型分布确实显示出与对照者中发现的基因型分布存在统计学上的显著差异。这种差异可能代表了选型交配的特征，或者可能表明纯合子DAT基因型对精神分裂症潜在发病机制有“修饰”作用。
