Liu Jun, Tan Yuhua, Zhang Fan, Wang Yan, Chen Shu, Zhang Na, Dai Wenjie, Zhou Liqing, Li Ji-Cheng
Medical Research Center Yue Bei People's Hospital, Shantou University Medical College Shaoguan China.
Shaoguan Maternal and Child Health Hospital Shaoguan China.
MedComm (2020). 2024 Feb 28;5(3):e488. doi: 10.1002/mco2.488. eCollection 2024 Mar.
Autism spectrum disorder (ASD) presents a significant risk to human well-being and has emerged as a worldwide public health concern. Twenty-eight children with ASD and 33 healthy children (HC) were selected for the quantitative determination of their plasma metabolites using an ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) platform. A total of 1997 metabolites were detected in the study cohort, from which 116 metabolites were found to be differentially expressed between the ASD and HC groups. Through analytical algorithms such as least absolute shrinkage selection operator (LASSO), support vector machine (SVM), and random forest (RF), three potential metabolic markers were identified as FAHFA (18:1(9Z)/9-O-18:0), DL-2-hydroxystearic acid, and 7(S),17(S)-dihydroxy-8(E),10(Z),13(Z),15(E),19(Z)-docosapentaenoic acid. These metabolites demonstrated superior performance in distinguishing the ASD group from the HC group, as indicated by the area under curves (AUCs) of 0.935, 0.897, and 0.963 for the three candidate biomarkers, respectively. The samples were divided into training and validation sets according to 7:3. Diagnostic models were constructed using logistic regression (LR), SVM, and RF. The constructed three-biomarker diagnostic model also exhibited strong discriminatory efficacy. These findings contribute to advancing our understanding of the underlying mechanisms involved in the occurrence of ASD and provide a valuable reference for clinical diagnosis.
自闭症谱系障碍(ASD)对人类福祉构成重大风险,已成为全球公共卫生关注的问题。选取了28名患有ASD的儿童和33名健康儿童(HC),使用超高效液相色谱-串联质谱(UPLC-MS/MS)平台对他们的血浆代谢物进行定量测定。在研究队列中总共检测到1997种代谢物,其中发现116种代谢物在ASD组和HC组之间存在差异表达。通过最小绝对收缩选择算子(LASSO)、支持向量机(SVM)和随机森林(RF)等分析算法,确定了三种潜在的代谢标志物,分别为脂肪酸酯(FAHFA,18:1(9Z)/9-O-18:0)、DL-2-羟基硬脂酸和7(S),17(S)-二羟基-8(E),10(Z),13(Z),15(E),19(Z)-二十二碳五烯酸。这些代谢物在区分ASD组和HC组方面表现出优异的性能,三种候选生物标志物的曲线下面积(AUC)分别为0.935、0.897和0.963。样本按照7:3分为训练集和验证集。使用逻辑回归(LR)、SVM和RF构建诊断模型。构建的三生物标志物诊断模型也表现出很强的鉴别效能。这些发现有助于增进我们对ASD发生所涉及潜在机制的理解,并为临床诊断提供有价值的参考。