Zhang C, Zhang Y, Cai J, Chen M, Song L
Schizophrenia Program, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Pharmacogenomics J. 2017 Jan;17(1):92-97. doi: 10.1038/tpj.2015.68. Epub 2015 Oct 27.
Metabolic syndrome (MetS) is considered to be an adverse effect of long-term treatment with atypical antipsychotics, particularly clozapine. There is strong evidence that the activation of inflammatory pathways interferes with normal metabolism and contributes to the development of MetS. C3, which is an inflammation molecule, has been reported to be associated with MetS. Because C3 is a heritable trait, we accordingly hypothesized that the gene encoding C3 (C3) would be a candidate gene for inter-individual variation in clozapine-induced MetS. We recruited 576 schizophrenia patients taking clozapine and measured the serum levels of fasting metabolic parameters. We then examined C3 mRNA and genotyped seven polymorphisms in C3. The expression quantitative trait locus (eQTL) data available for tissues were extracted by the Genotype-Tissue Expression Portal. A total of 105 patients' medical records were retrospectively reviewed to obtain the metabolic parameters during the initial 2-year clozapine treatment. The relative expression levels of C3 mRNA in patients with MetS were significantly higher than in those without MetS (P=0.02). C3 single-nucleotide polymorphism (SNP) rs2277984 was marginally associated with MetS (allelic P=0.06, odds ratio=1.36, 95% confidence interval (CI): 1.07-1.72). We found a significant association of rs2277984 with fasting triglyceride (TG) levels (P=0.004). Further, eQTL analysis revealed that rs2277984 regulates C3 expression in the liver (P=0.002). Similar results were found in the retrospective cohort analysis. The receiver operating characteristic curve showed a significant effect of the rs2277984 G allele on the percentage change of TG levels, with an area under the curve of 0.71 (95% CI: 0.60-0.81). C3 is likely to enhance TG accumulation and to confer susceptibility to clozapine-induced MetS. The C3 SNP rs2277984 may be a potential biomarker for predicting MetS risk in patients receiving clozapine treatment.
代谢综合征(MetS)被认为是非典型抗精神病药物长期治疗的不良反应,尤其是氯氮平。有强有力的证据表明,炎症通路的激活会干扰正常代谢并促成代谢综合征的发展。C3作为一种炎症分子,已被报道与代谢综合征有关。由于C3是一种可遗传的性状,因此我们推测编码C3的基因(C3)可能是氯氮平所致代谢综合征个体间差异的候选基因。我们招募了576名服用氯氮平的精神分裂症患者,并测量了空腹代谢参数的血清水平。然后我们检测了C3 mRNA并对C3中的7个多态性进行了基因分型。通过基因型-组织表达门户提取了可用于组织的表达数量性状位点(eQTL)数据。回顾性审查了总共105名患者的病历,以获取最初2年氯氮平治疗期间的代谢参数。代谢综合征患者中C3 mRNA的相对表达水平显著高于无代谢综合征的患者(P = 0.02)。C3单核苷酸多态性(SNP)rs2277984与代谢综合征存在边缘关联(等位基因P = 0.06,优势比 = 1.36,95%置信区间(CI):1.07 - 1.72)。我们发现rs2277984与空腹甘油三酯(TG)水平存在显著关联(P = 0.004)。此外,eQTL分析显示rs2277984调节肝脏中C3的表达(P = 0.002)。在回顾性队列分析中也发现了类似结果。受试者工作特征曲线显示rs2277984 G等位基因对TG水平变化百分比有显著影响,曲线下面积为0.71(95% CI:0.60 - 0.81)。C3可能会增强TG积累并使人易患氯氮平所致的代谢综合征。C3 SNP rs2277984可能是预测接受氯氮平治疗患者代谢综合征风险的潜在生物标志物。