Department of Biological Sciences, Simon Fraser University, 8888 University Drive, Burnaby, British Columbia, Canada V5A 1S6
Department of Biological Sciences, Simon Fraser University, 8888 University Drive, Burnaby, British Columbia, Canada V5A 1S6.
Biol Lett. 2018 Jan;14(1). doi: 10.1098/rsbl.2017.0694.
The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader-Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, and , mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with and Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia. These findings provide a single-locus genetic model for analysing the neurological and psychological bases of paranoid thinking, and implicate imprinted genes, and genomic conflicts, in human mentalistic thought.
人类大脑表达的印记基因的心理影响实际上是未知的。普拉德-威利综合征（PWS）是一种由基因组印记介导的神经遗传疾病，其特征是精神病发生率高，表现为幻觉和妄想，以及自闭症。两个大脑表达的印记基因 和 的异常表达在介导一系列与 PWS 相关的表型，包括行为方面，在小鼠中得到了证实。我们对一大群典型的精神分裂症谱系和自闭症谱系特征个体进行了表型分析，并对单核苷酸多态性 rs850807 进行了基因分型，该多态性假定具有功能，并与 和 相关。rs850807 的遗传变异与精神分裂症谱系的关系妄想亚量表强烈且完全相关，这最好被描述为妄想。这些发现为分析偏执思维的神经和心理基础提供了一个单基因座遗传模型，并暗示印记基因和基因组冲突与人类心理思维有关。
