Kirov George, Ivanov Dobril, Williams Nigel M, Preece Anna, Nikolov Ivan, Milev Radoi, Koleva Svetlinka, Dimitrova Albena, Toncheva Draga, O'Donovan Michael C, Owen Michael J
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, United Kingdom.
Biol Psychiatry. 2004 May 15;55(10):971-5. doi: 10.1016/j.biopsych.2004.01.025.
The gene encoding the dystrobrevin binding protein (DTNBP1) has been implicated in the pathogenesis of schizophrenia by several association studies. We tried to replicate these findings in a sample of 488 parent-proband trios recruited in Bulgaria. Probands had a diagnosis of schizophrenia (n = 441) or schizoaffective disorder (n = 47).
We genotyped eight single nucleotide polymorphisms within the gene, four of which had been reported in previous studies, and four identified as informative by our group through direct screening of the gene and genotyping in a sample of cases and control subjects.
A significant excess of transmissions was observed for two of the markers, p1635 and p1757, (p =.0009 and.0013, respectively). Analysis of two-, three-, and four-marker haplotypes produced numerous positive results, with six (4% of the total combinations) at p <.001.
These results provide strong support for DTNBP1 as a susceptibility gene for schizophrenia; however, different haplotypes seem to be associated in different studies.
多项关联研究表明，编码肌萎缩蛋白结合蛋白（DTNBP1）的基因与精神分裂症的发病机制有关。我们试图在保加利亚招募的488个亲代-先证者三联体样本中重复这些发现。先证者被诊断为精神分裂症（n = 441）或分裂情感性障碍（n = 47）。
我们对该基因内的8个单核苷酸多态性进行了基因分型，其中4个在先前的研究中已有报道，另外4个是我们小组通过对该基因进行直接筛选以及在病例和对照样本中进行基因分型而确定为信息丰富的。
观察到两个标记p1635和p1757的传递显著过量（分别为p = 0.0009和0.0013）。对双标记、三标记和四标记单倍型的分析产生了许多阳性结果，其中6个（占总组合的4%）在p < 0.001水平。
这些结果为DTNBP1作为精神分裂症的易感基因提供了有力支持；然而，不同的单倍型似乎在不同的研究中存在关联。
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