Wong M-L, Arcos-Burgos M, Liu S, Vélez J I, Yu C, Baune B T, Jawahar M C, Arolt V, Dannlowski U, Chuah A, Huttley G A, Fogarty R, Lewis M D, Bornstein S R, Licinio J
Mind &Brain Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, SA, Australia.
Department of Psychiatry, Flinders University School of Medicine, Bedford Park, SA, Australia.
Mol Psychiatry. 2017 Jul;22(7):1015-1025. doi: 10.1038/mp.2016.174. Epub 2016 Oct 25.
Major depressive disorder (MDD) affects around 350 million people worldwide; however, the underlying genetic basis remains largely unknown. In this study, we took into account that MDD is a gene-environment disorder, in which stress is a critical component, and used whole-genome screening of functional variants to investigate the 'missing heritability' in MDD. Genome-wide association studies (GWAS) using single- and multi-locus linear mixed-effect models were performed in a Los Angeles Mexican-American cohort (196 controls, 203 MDD) and in a replication European-ancestry cohort (499 controls, 473 MDD). Our analyses took into consideration the stress levels in the control populations. The Mexican-American controls, comprised primarily of recent immigrants, had high levels of stress due to acculturation issues and the European-ancestry controls with high stress levels were given higher weights in our analysis. We identified 44 common and rare functional variants associated with mild to moderate MDD in the Mexican-American cohort (genome-wide false discovery rate, FDR, <0.05), and their pathway analysis revealed that the three top overrepresented Gene Ontology (GO) processes were innate immune response, glutamate receptor signaling and detection of chemical stimulus in smell sensory perception. Rare variant analysis replicated the association of the PHF21B gene in the ethnically unrelated European-ancestry cohort. The TRPM2 gene, previously implicated in mood disorders, may also be considered replicated by our analyses. Whole-genome sequencing analyses of a subset of the cohorts revealed that European-ancestry individuals have a significantly reduced (50%) number of single nucleotide variants compared with Mexican-American individuals, and for this reason the role of rare variants may vary across populations. PHF21b variants contribute significantly to differences in the levels of expression of this gene in several brain areas, including the hippocampus. Furthermore, using an animal model of stress, we found that Phf21b hippocampal gene expression is significantly decreased in animals resilient to chronic restraint stress when compared with non-chronically stressed animals. Together, our results reveal that including stress level data enables the identification of novel rare functional variants associated with MDD.
重度抑郁症(MDD)影响着全球约3.5亿人;然而,其潜在的遗传基础在很大程度上仍不为人知。在本研究中,我们考虑到MDD是一种基因-环境疾病,其中压力是一个关键因素,并使用功能变异的全基因组筛选来研究MDD中“缺失的遗传力”。我们在洛杉矶墨西哥裔美国人队列(196名对照,203名MDD患者)和一个复制性欧洲血统队列(499名对照,473名MDD患者)中,使用单基因座和多基因座线性混合效应模型进行了全基因组关联研究(GWAS)。我们的分析考虑了对照人群中的压力水平。主要由新移民组成的墨西哥裔美国人对照组,由于文化适应问题而承受着较高的压力,并且在我们的分析中,压力水平高的欧洲血统对照组被赋予了更高的权重。我们在墨西哥裔美国人队列中鉴定出44个与轻度至中度MDD相关的常见和罕见功能变异(全基因组错误发现率,FDR,<0.05),它们的通路分析表明,三个最显著富集的基因本体(GO)过程是先天免疫反应、谷氨酸受体信号传导以及嗅觉感官知觉中的化学刺激检测。罕见变异分析在种族不相关的欧洲血统队列中重复了PHF21B基因的关联。先前与情绪障碍有关的TRPM2基因,也可能被我们的分析所重复验证。对部分队列的全基因组测序分析表明,与墨西哥裔美国人相比,欧洲血统个体的单核苷酸变异数量显著减少(50%),因此罕见变异的作用可能因人群而异。PHF21b变异对该基因在包括海马体在内的几个脑区的表达水平差异有显著贡献。此外,使用压力动物模型,我们发现与非长期应激动物相比,在对慢性束缚应激具有恢复力的动物中,Phf21b海马体基因表达显著降低。总之,我们的结果表明,纳入压力水平数据能够识别与MDD相关的新型罕见功能变异。