Alfimova M V, Kondratiev N V, Golimbet V E
Mental Health Research Center, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(11):137-144. doi: 10.17116/jnevro2016116111137-144.
This review highlights the basic paradigms and directions of molecular genetic studies of cognitive deficits in schizophrenia. Along with the traditional approach based on functional candidate genes, it covers genome-wide association studies (GWAS) for cognition in general population and schizophrenic patients, attempts to integrate GWAS results in polygenic profiles that can be used in personalized care of schizophrenic patients, and a search for biological pathways implicated in the development of cognitive impairments with bioinformatics methods. However, despite significant advances in understanding the genetic basis of the disease and a rapidly growing amount of data on genes associated with cognitive functions, most of the variability of cognitive impairments in patients remains unexplained. The data on the functional complexity of the genome accumulated in the fields of molecular biology and genetics underscore the importance of studying epigenetic mechanisms of cognitive deficits in schizophrenia.
本综述重点介绍了精神分裂症认知缺陷分子遗传学研究的基本范式和方向。除了基于功能候选基因的传统方法外，还涵盖了针对普通人群和精神分裂症患者认知的全基因组关联研究（GWAS）、将GWAS结果整合到可用于精神分裂症患者个性化护理的多基因概况中的尝试，以及使用生物信息学方法寻找与认知障碍发展相关的生物学途径。然而，尽管在理解该疾病的遗传基础方面取得了重大进展，且与认知功能相关的基因数据迅速增加，但患者认知障碍的大部分变异性仍无法解释。分子生物学和遗传学领域积累的关于基因组功能复杂性的数据强调了研究精神分裂症认知缺陷表观遗传机制的重要性。
