Salminen Iiro, Read Silven, Hurd Pete, Crespi Bernard
Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada.
Department of Biological Sciences, Simon Fraser University, Burnaby, British Columbia, Canada.
Psychiatry Res. 2020 Feb 8;286:112858. doi: 10.1016/j.psychres.2020.112858.
The paternally expressed gene SNORD116 encodes a set of short nucleolar RNAs that affect the expression of hundreds of other genes via epigenetic interactions. Lack of expression for SNORD116 has been implicated in major phenotypes of Prader-Willi Syndrome (PWS). Rates of psychosis and autism spectrum disorders are greatly increased in PWS, but the genetic and epigenetic causes of these increases remain unknown. We genotyped a large population of typical individuals for five SNPs within SNORD116 and phenotyped them for variation in schizotypal and autism spectrum traits. SNORD116 SNP and haplotype variation mediated variation exclusively in the Schizotypal Personality Questionnaire - Ideas of Reference subscale, which reflects variation in aspects of paranoia. The effect was restricted to females. SNORD116 represents, in addition to UBE3A and NDN-MAGEL2, a third, independent locus in the 15q11-q13 imprinted region that preferentially or exclusively affects levels of paranoia. This convergent pattern may reflect a common neural pathway affected by multiple genes, or an effect of interactions between the imprinted loci.
父源表达基因SNORD116编码一组短核仁RNA，这些RNA通过表观遗传相互作用影响数百个其他基因的表达。SNORD116表达缺失与普拉德-威利综合征（PWS）的主要表型有关。PWS患者中精神病和自闭症谱系障碍的发生率大幅增加，但这些增加的遗传和表观遗传原因仍不清楚。我们对大量典型个体的SNORD116内的五个单核苷酸多态性（SNP）进行了基因分型，并对他们的分裂型人格和自闭症谱系特征的变异进行了表型分析。SNORD116 SNP和单倍型变异仅介导分裂型人格问卷-牵连观念分量表中的变异，该分量表反映了偏执方面的变异。这种效应仅限于女性。除了UBE3A和NDN-MAGEL2之外，SNORD116代表15q11-q13印记区域中的第三个独立基因座，该基因座优先或专门影响偏执水平。这种趋同模式可能反映了受多个基因影响的共同神经通路，或者印记基因座之间相互作用的影响。
