Zou Shiqi, Mendes-Silva Ana Paula, Dos Santos Fernanda C, Ebrahimi Mahbod, Kennedy James L, Goncalves Vanessa F
Department of Physiology and Pharmacology, Karolinska Institute, Solnavagen 9, 171 65, Solna, Sweden.
Department of Psychiatry, University of Saskatchewan, Saskatoon, SK, Canada.
Mol Neurobiol. 2025 Jun 11. doi: 10.1007/s12035-025-05133-8.
The brain requires a large amount of energy, primarily obtained through glucose metabolism, which appears to be disrupted in various neuropsychiatric disorders. The etiology of neuropsychiatric disorders is complex and involves genetic factors that are slowly being identified. To investigate whether glucose metabolism-related genes are associated with major psychiatric disorders, we conducted secondary analyses using genome-wide association study (GWAS) summary statistics for major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia (SCZ). Based on predefined glucose metabolism pathway genes, we conducted a multi-layer integrative analysis using gene-level approaches including multi-marker analysis of genomic annotation (MAGMA), transcriptome-wide association studies (TWAS) with joint-tissue imputation (JTI), and summary-based Mendelian randomization (SMR). We further explored gene expression patterns across tissues, druggability, and applied gene network analysis to evaluate the interactions. MAGMA identified 1 significant gene for MDD, 19 for BD, and 32 for SCZ, with gene RBKS shared across all three disorders. TWAS-JTI detected 17 and 35 transcriptome-wide significant genes for BD and SCZ, respectively, while SMR prioritized 2 and 9 putatively causal genes. For MDD, no convergent evidence emerged from TWAS-JTI or SMR analyses. Integrated analysis highlighted NDUFS2, NDUFS7, and NDUFC2 in the oxidative phosphorylation pathway as potential therapeutic targets. Finally, gene network analysis highlighted enrichment in mitochondrial respiratory chain complex I biogenesis, NADH dehydrogenase complex assembly, and ATP synthesis. Our results reinforce the role of energy metabolic disturbance in psychiatric disorders, particularly in BD and SCZ. These findings open avenues for targeted therapeutic interventions, warranting further validation across populations.
大脑需要大量能量,主要通过葡萄糖代谢获取,而在各种神经精神疾病中,这种代谢过程似乎会受到干扰。神经精神疾病的病因复杂,涉及一些正在逐步被识别的遗传因素。为了研究与葡萄糖代谢相关的基因是否与主要精神疾病有关,我们利用全基因组关联研究(GWAS)针对重度抑郁症(MDD)、双相情感障碍(BD)和精神分裂症(SCZ)的汇总统计数据进行了二次分析。基于预定义的葡萄糖代谢途径基因,我们采用了基因水平的方法进行了多层综合分析,包括基因组注释的多标记分析(MAGMA)、联合组织插补(JTI)的全转录组关联研究(TWAS)以及基于汇总数据的孟德尔随机化(SMR)。我们进一步探索了不同组织中的基因表达模式、药物可及性,并应用基因网络分析来评估相互作用。MAGMA分别为MDD鉴定出1个显著基因、为BD鉴定出19个、为SCZ鉴定出32个,所有这三种疾病共有的基因是RBKS。TWAS-JTI分别为BD和SCZ检测到17个和35个全转录组显著基因,而SMR确定了2个和9个可能的因果基因。对于MDD,TWAS-JTI或SMR分析未得出一致的证据。综合分析突出了氧化磷酸化途径中的NDUFS2、NDUFS7和NDUFC2作为潜在的治疗靶点。最后,基因网络分析突出了线粒体呼吸链复合物I生物发生、NADH脱氢酶复合物组装和ATP合成方面的富集。我们的结果强化了能量代谢紊乱在精神疾病中的作用,尤其是在BD和SCZ中。这些发现为有针对性的治疗干预开辟了途径,值得在不同人群中进一步验证。