基于体素的空间统计学研究双相情感障碍基因型风险增加与脑白质完整性的关联：“情感障碍的转化与神经科学研究”特刊。栏目编辑：医学博士、哲学博士玛丽亚·诺比利。《情感障碍杂志》的这一栏目聚焦于转化与神经科学研究在更好地理解情感障碍神经基础方面的相关性。主要目的是简要总结临床神经科学中的相关研究发现，特别是关于情绪和焦虑障碍中特定创新主题的研究发现。
Association of increased genotypes risk for bipolar disorder with brain white matter integrity investigated with tract-based spatial statistics: Special Section on "Translational and Neuroscience Studies in Affective Disorders". Section Editor, Maria Nobile MD, PhD. This Section of JAD focuses on the relevance of translational and neuroscience studies in providing a better understanding of the neural basis of affective disorders. The main aim is to briefly summarise relevant research findings in clinical neuroscience with particular regards to specific innovative topics in mood and anxiety disorders.
作者信息
Squarcina L, Houenou J, Altamura A C, Soares J, Brambilla P
机构信息
IRCCS "E. Medea" Scientific Institute, Bosisio Parini, Italy.
APHP, Hôpitaux Universitaires Mondor, Pôle de psychiatrie, Faculté de Médecine, Université Paris Est, INSERM U955, IMRB, Equipe 15, Psychiatrie Translationnelle, Créteil, France; UNIACT, Psychiatry Team, Neurospin Neuroimaging Platform, CEA Saclay, Gif-Sur-Yvette, France.
出版信息
J Affect Disord. 2017 Oct 15;221:312-317. doi: 10.1016/j.jad.2017.06.031. Epub 2017 Jun 15.
BACKGROUND
Diffusion tensor imaging (DTI) studies, which allow the in-vivo investigation of brain tissue integrity, have shown that bipolar disorder (BD) patients present signs of white matter dysconnectivity. In parallel, genome-wide association studies (GWAS) identified several risk genetic variants for BD.
I METHODS
In this mini-review, we summarized DTI studies coupling tract-based spatial statistics (TBSS), a reliable technique exploring white matter axon bundles, and genetics in BD. We performed a bibliographic search on PUBMED, using the search terms "TBSS", "genetics", "genome", "genes", "polymorphism", "bipolar disorder".
RESULTS
Ten studies met these inclusion criteria. ANK3 and ZNF804A polymorphisms have shown the most consistent results, with the risk alleles showing abnormal white matter integrity in patients with BD.
LIMITATIONS
Current studies are limited by the investigation of single SNPs in small and chronically treated samples.
CONCLUSIONS
Most considered TBSS-DTI studies found associations between decreased white matter integrity and genetic risk variants. These results suggest an involvement of dysmyelination in the pathogenesis of BD. The combination of TBSS with genotyping can be powerful to unveil the role of white matter in BD, in conjunction with risk genes. Future DTI studies should combine TBSS and GWAS in large populations of drug-free or minimally treated patients with BD at the onset of the disease.
背景
扩散张量成像（DTI）研究能够在体内研究脑组织完整性，其结果显示双相情感障碍（BD）患者存在白质连接障碍的迹象。与此同时，全基因组关联研究（GWAS）确定了BD的几个风险基因变异。
方法
在本综述中，我们总结了将基于纤维束的空间统计学（TBSS）（一种探索白质轴突束的可靠技术）与BD遗传学相结合的DTI研究。我们在PUBMED上进行了文献检索，使用的检索词为“TBSS”、“遗传学”、“基因组”、“基因”、“多态性”、“双相情感障碍”。
结果
有10项研究符合这些纳入标准。ANK3和ZNF804A多态性显示出最一致的结果，风险等位基因在BD患者中表现出白质完整性异常。
局限性
目前的研究受到在小样本和长期治疗样本中对单个单核苷酸多态性（SNP）进行研究的限制。
结论
大多数纳入的TBSS-DTI研究发现白质完整性降低与遗传风险变异之间存在关联。这些结果表明脱髓鞘参与了BD的发病机制。将TBSS与基因分型相结合，对于揭示白质在BD中的作用以及与风险基因的关系可能具有强大作用。未来的DTI研究应在大量疾病初发时未用药或接受最少治疗的BD患者中，将TBSS与GWAS相结合。
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