Tochigi Mamoru, Zhang Xuan, Ohashi Jun, Hibino Hiroyuki, Otowa Takeshi, Rogers Mark, Kato Tadafumi, Okazaki Yuji, Kato Nobumasa, Tokunaga Katsushi, Sasaki Tsukasa
Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Neurosci Res. 2006 Oct;56(2):154-8. doi: 10.1016/j.neures.2006.06.009. Epub 2006 Jul 31.
Dysbindin (DTNBP1: dystrobrevin binding protein 1), located on 6p22.3, is a candidate susceptibility gene for schizophrenia. Several studies, mostly in Caucasians, have provided evidence for an association between schizophrenia and the gene, although no common polymorphism or haploytpe has been established. In Asian populations, two studies investigated a limited number of single nucleotide polymorphisms (SNPs) of dysbindin and observed support for the association. In the present study, we investigated 12 SNPs of dysbindin, including those examined in previous Asian studies, and the corresponding haplotypes in a Japanese people with schizophrenia. As a result, no significant difference was observed between patients and controls in allelic frequencies or genotypic distributions of the 12 SNPs. Permutation test however showed significant differences in frequencies of the estimated 10-marker haplotypes between patients and controls (global p = 0.006). The present study may provide further support for an association between dysbindin and schizophrenia in Asian populations. The results might be similar to a previous Asian study, but specific haplotypes suggested for the association differed between the studies. Studies with more markers and subjects may be required before firm conclusions can be reached.
失调结合蛋白(DTNBP1:肌萎缩蛋白结合蛋白1)位于6号染色体短臂22.3区,是精神分裂症的一个候选易感基因。多项研究(大多针对高加索人群)为精神分裂症与该基因之间的关联提供了证据,不过尚未确定常见的多态性或单倍型。在亚洲人群中,有两项研究调查了失调结合蛋白数量有限的单核苷酸多态性(SNP),并观察到对这种关联的支持。在本研究中,我们调查了失调结合蛋白的12个SNP,包括之前亚洲研究中检测过的那些,以及在一组日本精神分裂症患者中的相应单倍型。结果,在这12个SNP的等位基因频率或基因型分布上,患者与对照组之间未观察到显著差异。然而,置换检验显示,患者与对照组之间估计的10标记单倍型频率存在显著差异(全局p = 0.006)。本研究可能为失调结合蛋白与亚洲人群精神分裂症之间的关联提供进一步支持。结果可能与之前的一项亚洲研究相似,但两项研究中为这种关联所提示的特定单倍型有所不同。在得出确切结论之前,可能需要进行更多标记和更多受试者的研究。