Faculty of Engineering and Natural Sciences, Department of Genetics and Bioengineering, International University of Sarajevo, Sarajevo, Bosnia and Herzegovina; Faculty of Engineering and Natural Sciences, Department of Molecular Biology and Genetics, Uskudar University, Istanbul, Turkey.
Prog Neuropsychopharmacol Biol Psychiatry. 2018 Jan 3;80(Pt B):155-165. doi: 10.1016/j.pnpbp.2017.06.018. Epub 2017 Jun 20.
Imaging genetics is a research methodology studying the effect of genetic variation on brain structure, function, behavior, and risk for psychopathology. Since the early 2000s, imaging genetics has been increasingly used in the research of schizophrenia (SZ). SZ is a severe mental disorder with no precise knowledge of its underlying neurobiology, however, new genetic and neurobiological data generate a climate for new avenues. The accumulating data of genome wide association studies (GWAS) continuously decode SZ risk genes. Global neuroimaging consortia produce collections of brain phenotypes from tens of thousands of people. In this context, imaging genetics will be strategically important both for the validation and discovery of SZ related findings. Thus, the study of GWAS supported risk variants as candidate genes to validate by neuroimaging is one trend. The study of epigenetic differences in relation to variations of brain phenotypes and the study of large scale multivariate analysis of genome wide and brain wide associations are other trends. While these studies hold a big potential for understanding the neurobiology of SZ, the problem of reproducibility appears as a major challenge, which requires standardizations in study designs and compensations of methodological limitations such as sensitivity and specificity. On the other hand, advancements of neuroimaging, optical and electron microscopy along with the use of genetically encoded fluorescent probes and robust statistical approaches will not only catalyze integrative methodologies but also will help better design the imaging genetics studies. In this invited paper, I will discuss the current perspective of imaging genetics and emerging opportunities of SZ research.
影像遗传学是一种研究遗传变异对大脑结构、功能、行为和精神病理学风险影响的研究方法。自 21 世纪初以来，影像遗传学越来越多地应用于精神分裂症（SZ）的研究。SZ 是一种严重的精神障碍，其潜在的神经生物学机制尚不清楚，但新的遗传和神经生物学数据为新的研究途径提供了契机。全基因组关联研究（GWAS）的累积数据不断解码 SZ 风险基因。全球神经影像学联盟从数万人中产生了大量的脑表型集合。在这种情况下，影像遗传学对于 SZ 相关发现的验证和发现都具有重要的战略意义。因此，研究 GWAS 支持的风险变异作为候选基因通过神经影像学进行验证是一种趋势。研究与脑表型变化相关的表观遗传差异以及对全基因组和全脑关联的大规模多元分析的研究是另一种趋势。虽然这些研究为理解 SZ 的神经生物学提供了巨大的潜力，但可重复性问题似乎是一个主要挑战，这需要在研究设计中进行标准化，并补偿方法学上的局限性，如敏感性和特异性。另一方面，神经影像学、光学和电子显微镜的进步，以及遗传编码荧光探针的使用和稳健的统计方法不仅将促进整合方法学，还有助于更好地设计影像遗传学研究。在这篇特邀论文中，我将讨论影像遗传学的当前视角和 SZ 研究的新兴机会。
