Mitsuyasu H, Hirata N, Sakai Y, Shibata H, Takeda Y, Ninomiya H, Kawasaki H, Tashiro N, Fukumaki Y
Division of Disease Genes, Institute of Genetic Information, Kyushu University, Fukuoka, Japan.
J Hum Genet. 2001;46(1):26-31. doi: 10.1007/s100380170120.
The human dopamine D4 receptor (DRD4) is of major interest in molccular studies of schizophrenia and personality traits. We examined the association of schizophrenia and polymorphisms in the upstream region of the DRD4 gene (-768G>A in the negative modulator region; -521C>T, -376C >T, and -291C>T in the cell type-specific promoter region; and -616C>G between the two regions) in 208 schizophrenic patients and 210 normal controls. No significant difference in genotype and allele frequencies was observed between the two groups, indicating that these polymorphisms do not make a major contribution to the pathogenesis of schizophrenia. We also studied the association of polymorphisms in the upstream region and a 48-bp repeat polymorphism in exon III of the DRD4 gene with personality traits in 173 Japanese individuals who completed the temperament and character inventory (TCI). The -768G>A polymorphism was significantly associated with reward dependence (P= 0.044), while no significant association was observed between novelty seeking and polymorphisms in the upstream region or the exon III repeat polymorphism of the DRD4 gene.
人类多巴胺D4受体（DRD4）在精神分裂症和人格特质的分子研究中备受关注。我们检测了208例精神分裂症患者和210例正常对照中，精神分裂症与DRD4基因上游区域多态性（负调控区域的-768G>A；细胞类型特异性启动子区域的-521C>T、-376C>T和-291C>T；以及两个区域之间的-616C>G）的关联。两组之间在基因型和等位基因频率上未观察到显著差异，表明这些多态性对精神分裂症的发病机制没有重大贡献。我们还研究了173名完成气质与性格问卷（TCI）的日本个体中，DRD4基因上游区域多态性和外显子III中48bp重复多态性与人格特质的关联。-768G>A多态性与奖赏依赖显著相关（P=0.044），而在寻求新奇与DRD4基因上游区域多态性或外显子III重复多态性之间未观察到显著关联。
