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首页> 外文期刊>Psychiatric genetics >No evidence for excess runs of homozygosity in bipolar disorder.
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No evidence for excess runs of homozygosity in bipolar disorder.

机译:没有证据表明双相情感障碍的纯合子过多。

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BACKGROUND: Recent studies have reported large common regions of homozygosity (ROHs) that are the result of autozygosity, that is, the cooccurrence within individuals of long haplotypes that have a high frequency in the population. A recent study reports that such regions are found more commonly in individuals with schizophrenia compared with controls, and identified nine 'risk ROHs' that were individually more common in cases. Of these, four contained or neighboured genes associated with schizophrenia (NOS1AP/UHMK1, ATF2, NSF and PIK3C3). METHODS: We have applied the same methodology to a UK sample of 506 cases with bipolar disorder and 510 controls. RESULTS: There was no overall excess of common ROHs among bipolar individuals. With one exception, the haplotypes accounting for the ROHs appeared to be distributed according to the Hardy-Weinberg equilibrium. One ROH was individually more common among cases (uncorrected P = 0.0003). This ROH spanned the chromosome 2p23.3 gene ITSN2 (the gene for intersectin 2 isoform 2). However, inspection of the homozygous haplotypes and haplotype-based tests for association failed to provide a clearer understanding of why this ROH was occurring more commonly. CONCLUSION: Overall, we conclude that, in contrast with schizophrenia, common ROHs are rarely associated with susceptibility to bipolar disorder. This supports the idea that predominantly different genes are increasing susceptibility to schizophrenia and bipolar affective disorders.
机译:背景:最近的研究已经报道了纯合性(ROHs)的大的共同区域,这是自纯合性的结果,也就是说,长单倍型个体中的共生在人群中频率很高。最近的一项研究报告说,与对照组相比,这种区域在精神分裂症患者中更为常见,并确定了九种“风险ROH”,在个别情况下更为常见。其中,四个包含或邻近的与精神分裂症相关的基因(NOS1AP / UHMK1,ATF2,NSF和PIK3C3)。方法:我们将相同的方法应用于506例躁郁症和510例对照的英国样本中。结果:双相个体之间没有普遍过量的普通ROH。除了一个例外,考虑到ROH的单倍型似乎是根据Hardy-Weinberg平衡分布的。在每种情况下,一种ROH单独出现更为普遍(未校正P = 0.0003)。该ROH跨越了染色体2p23.3基因ITSN2(intersectin 2同工型2的基因)。但是,检查纯合单倍型和基于单倍型的关联测试无法更清楚地了解为何发生这种ROH的原因。结论:总的来说,我们得出的结论是,与精神分裂症相反,常见的ROH与双相情感障碍的易感性很少相关。这支持以下观点:主要是不同的基因正在增加对精神分裂症和双相情感障碍的易感性。

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