Nissen Judith Becker, Hansen Christine Søholm, Starnawska Anna, Mattheisen Manuel, Børglum Anders Dupont, Buttenschøn Henriette Nørmølle, Hollegaard Mads
Center of Child and Adolescent Psychiatry (BUC), Aarhus University Hospital , Risskov , Denmark.
Department of Congenital Diseases, Neonatal Genetics, Statens Serum Institut , Copenhagen , Denmark.
Front Psychiatry. 2016 Mar 18;7:35. doi: 10.3389/fpsyt.2016.00035. eCollection 2016.
Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder. Non-genetic factors and their interaction with genes have attracted increasing attention. Epigenetics is regarded an important interface between environmental signals and activation/repression of genomic responses. Epigenetic mechanisms have not previously been examined in OCD in children and adolescents. The aim of the present study was to examine the DNA methylation profile of selected genes in blood spots from neonates later diagnosed with OCD and in the same children/adolescents at the time of diagnosis compared with age- and sex-matched controls. Furthermore, we wanted to characterize the association of the differential methylation profiles with the severity of OCD and treatment outcome. Dried and new blood spot samples were obtained from 21 female children/adolescents with verified OCD and 12 female controls. The differential methylation was analyzed using a linear model and the correlation with the severity of OCD and treatment outcome was analyzed using the Pearson correlation. We evaluated selected Illumina Infinium HumanMethylation450 BeadChip probes within and up to 100,000 bp up- and downstream of 14 genes previously associated with OCD (SLC1A1, SLC25A12, GABBR1, GAD1, DLGAP1, MOG, BDNF, OLIG2, NTRK2 and 3, ESR1, SL6A4, TPH2, and COMT). The study found no significantly differential methylation. However, preliminary support for a difference was found for the gamma-aminobutyric acid (GABA) B receptor 1 (cg10234998, cg17099072) in blood samples at birth and for the estrogen receptor 1 (ESR1) (cg10939667), the myelin oligodendrocyte glycoprotein (MOG) (cg16650906), and the brain-derived neurotrophic factor (BDNF) (cg14080521) in blood samples at the time of diagnosis. Preliminary support for an association was observed between the methylation profiles of GABBR1 and MOG and baseline severity, treatment effect, and responder status; and between the methylation profile of ESR1 and baseline severity. To our knowledge, this is the first study to examine the DNA methylation profiles in OCD. The study points towards possible differences in the methylation profiles and suggests a correlation with the severity of OCD. However, the results warrant further studies in larger sample sets.
强迫症(OCD)是一种神经精神障碍。非遗传因素及其与基因的相互作用已引起越来越多的关注。表观遗传学被视为环境信号与基因组反应激活/抑制之间的重要界面。此前尚未对儿童和青少年强迫症的表观遗传机制进行研究。本研究的目的是检查后来被诊断为强迫症的新生儿血斑中选定基因的DNA甲基化谱,并将其与诊断时的同年龄、同性别的儿童/青少年以及对照进行比较。此外,我们还想确定差异甲基化谱与强迫症严重程度和治疗结果之间的关联。从21名确诊为强迫症的女童/青少年和12名女性对照中获取干燥的和新的血斑样本。使用线性模型分析差异甲基化,并使用Pearson相关性分析其与强迫症严重程度和治疗结果的相关性。我们评估了Illumina Infinium HumanMethylation450 BeadChip芯片上先前与强迫症相关的14个基因(SLC1A1、SLC25A12、GABBR1、GAD1、DLGAP1、MOG、BDNF、OLIG2、NTRK2和3、ESR1、SL6A4、TPH2和COMT)及其上下游长达100,000 bp范围内的选定探针。研究未发现显著的差异甲基化。然而,初步支持出生时血样中γ-氨基丁酸(GABA)B受体1(cg10234998、cg17099072)以及诊断时血样中雌激素受体1(ESR1)(cg10939667)、髓鞘少突胶质细胞糖蛋白(MOG)(cg16650906)和脑源性神经营养因子(BDNF)(cg14080521)存在差异。初步支持观察到GABBR1和MOG的甲基化谱与基线严重程度、治疗效果和反应者状态之间存在关联;以及ESR1的甲基化谱与基线严重程度之间存在关联。据我们所知,这是第一项研究强迫症DNA甲基化谱的研究。该研究指出甲基化谱可能存在差异,并表明其与强迫症严重程度相关。然而,结果需要在更大样本量的研究中进一步验证。