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精神分裂症的全基因组关联研究及其结果的潜在病因学和功能意义。

Genome-wide association studies in schizophrenia, and potential etiological and functional implications of their results.

作者信息

Hosák Ladislav, Silhan Petr, Hosáková Jirina

机构信息

Charles University in Prague, Faculty of Medicine in Hradec Králové, Czech Republic.

出版信息

Acta Medica (Hradec Kralove). 2012;55(1):3-11. doi: 10.14712/18059694.2015.67.

Abstract

BACKGROUND

Despite the fact that the genetic basis of schizophrenia has been intensively studied for more than two decades, our contemporary knowledge in this field is rather fractional, and a substantial part of it is still missing. The aim of this review article is to sum up the data coming from genome-wide association genetic studies in schizophrenia, and indicate prospective directions of further scientific endeavour.

METHODS

We searched the National Human Genome Research Institute's Catalog of genome-wide association studies for schizophrenia to identify all papers related to this topic. In consequence, we looked up the possible relevancy of these findings for etiology and pathogenesis of schizophrenia using the computer gene and PubMed databases.

RESULTS

Eighteen genome-wide association studies in schizophrenia have been published till now, referring to fifty-seven genes supposedly involved into schizophrenia's etiopathogenesis. Most of these genes are related to neurodevelopment, neuroendocrinology, and immunology.

CONCLUSIONS

It is reasonable to predict that complex studies of sufficiently large samples, involving detection of copy number variants and assessment of endophenotypes, will produce definitive discoveries of genetic risk factors for schizophrenia in the future.

摘要

背景

尽管精神分裂症的遗传基础已经经过二十多年的深入研究,但我们目前在该领域的知识仍相当零散,其中很大一部分仍然缺失。这篇综述文章的目的是总结来自精神分裂症全基因组关联基因研究的数据,并指出进一步科学研究的前瞻性方向。

方法

我们在国家人类基因组研究所的精神分裂症全基因组关联研究目录中进行搜索,以识别所有与该主题相关的论文。随后,我们利用计算机基因数据库和PubMed数据库查找这些发现与精神分裂症病因和发病机制的可能相关性。

结果

截至目前,已经发表了18项精神分裂症全基因组关联研究,涉及据推测与精神分裂症病因发病机制有关的57个基因。这些基因大多与神经发育、神经内分泌学和免疫学有关。

结论

可以合理预测,未来通过对足够大样本的复杂研究,包括检测拷贝数变异和评估内表型,将最终发现精神分裂症的遗传风险因素。

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