The Mind Research Network and Lovelace Biomedical and Environmental Research Institute, Albuquerque, NM.
Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany.
Schizophr Bull. 2018 Feb 15;44(2):443-452. doi: 10.1093/schbul/sbx068.
Closely linking genetics and environment factors, epigenetics has been of increasing interest in psychiatric disease studies. In this work, we integrated single nucleotide polymorphisms (SNPs), DNA methylation of blood and saliva, and brain gray matter (GM) measures to explore the role of genetic and epigenetic variation to the brain structure changes in schizophrenia (SZ). By focusing on the reported SZ genetic risk regions, we applied a multi-stage multivariate analysis to a discovery dataset (92 SZ patients and 110 controls, blood) and an independent replication dataset (93 SZ patients and 99 controls, saliva). Two pairs of SNP-methylation components were significantly correlated (r = .48 and .35) in blood DNA, and replicated (r = .46 and .29) in saliva DNA, reflecting cross-tissue SNP cis-effects. In the discovery data, both SNP-related methylation components were also associated with one GM component primarily located in cerebellum, caudate, and thalamus. Additionally, another methylation component in NOSIP gene with significant SZ patient differences (P = .009), was associated with 8 GM components (7 with patient differences) including superior, middle, and inferior frontal gyri, superior, middle, and inferior temporal gyri, cerebellum, insula, cuneus, and lingual gyrus. Of these, 5 methylation-GM associations were replicated (P < .05). In contrast, no pairwise significant associations were observed between SNP and GM components. This study strongly supports that compared to genetic variation, epigenetics show broader and more significant associations with brain structure as well as diagnosis, which can be cross-tissue, and the potential in explaining the mechanism of genetic risks in SZ.
紧密联系遗传学和环境因素,表观遗传学已成为精神疾病研究中越来越受关注的领域。在这项工作中,我们整合了单核苷酸多态性(SNPs)、血液和唾液中的 DNA 甲基化以及大脑灰质(GM)测量值,以探索遗传和表观遗传变异对精神分裂症(SZ)脑结构变化的作用。通过关注已报道的 SZ 遗传风险区域,我们应用多阶段多元分析方法对发现数据集(92 例 SZ 患者和 110 例对照者,血液)和独立复制数据集(93 例 SZ 患者和 99 例对照者,唾液)进行分析。在血液 DNA 中,两对 SNP-甲基化成分显著相关(r =.48 和.35),在唾液 DNA 中复制(r =.46 和.29),反映了跨组织 SNP 顺式效应。在发现数据中,SNP 相关的甲基化成分也与一个主要位于小脑、尾状核和丘脑的 GM 成分相关。此外,NOSIP 基因中具有显著 SZ 患者差异的另一个甲基化成分(P =.009)与 8 个 GM 成分相关(7 个具有患者差异),包括额上回、额中回、额下回、颞上回、颞中回、颞下回、小脑、脑岛、楔前叶和舌回。其中,5 个甲基化-GM 关联得到了复制(P <.05)。相比之下,SNP 和 GM 成分之间没有观察到两两显著关联。这项研究强烈支持,与遗传变异相比,表观遗传学与大脑结构以及诊断具有更广泛和更显著的关联,这种关联可以是跨组织的,并且有可能解释 SZ 遗传风险的机制。