Grove Jakob, Børglum Anders D, Pearce Brad D
Department of Biomedicine, Aarhus University, Aarhus, Denmark ; Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark ; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark ; iSEQ, Centre for Integrative Sequencing, Aarhus University, Denmark.
Department of Biomedicine, Aarhus University, Aarhus, Denmark ; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark ; iSEQ, Centre for Integrative Sequencing, Aarhus University, Denmark ; Translational Neuropsychiatry Unit, Department of Clinical Medicine, Aarhus University, Denmark.
Curr Behav Neurosci Rep. 2014 Dec 1;1(4):215-223. doi: 10.1007/s40473-014-0022-1.
In recent years good progress has been made in uncovering the genetic underpinnings of schizophrenia. Even so, as a polygenic disorder, schizophrenia has a complex etiology that is far from understood. Meanwhile data are being collected enabling the study of interactions between genes and the environment. A confluence of data from genetic and environmental exposure studies points to the role of infections and immunity in the pathophysiology of schizophrenia. In a recent study by Børglum et al., a single nucleotide polymorphism (SNP) in the gene CTNNA3 was identified that may provide clues to gene-environment interactions. The carriers of the minor allele for the SNP had a 5 fold risk of later developing schizophrenia if their mothers were CMV positive, while the children not carrying the allele had no excess risk from maternal CMV. In the current paper we summarize recent advances to clarify possible mechanism of such interactions between the host genotype and infection in schizophrenia risk.
近年来，在揭示精神分裂症的遗传基础方面取得了良好进展。即便如此，作为一种多基因疾病，精神分裂症有着复杂的病因，目前仍远未被理解。与此同时，正在收集的数据使得对基因与环境之间相互作用的研究成为可能。来自基因和环境暴露研究的数据汇聚在一起，指向感染和免疫在精神分裂症病理生理学中的作用。在Børglum等人最近的一项研究中，在CTNNA3基因中鉴定出一个单核苷酸多态性（SNP），这可能为基因-环境相互作用提供线索。如果母亲是巨细胞病毒（CMV）阳性，该SNP的次要等位基因携带者日后患精神分裂症的风险是常人的5倍，而不携带该等位基因的孩子则不会因母亲感染CMV而有额外风险。在本论文中，我们总结了近期的进展，以阐明宿主基因型与感染之间这种相互作用在精神分裂症风险中的可能机制。
