PR002383 (Project)

Description:Metabolomic analysis was performed on cord blood plasma from 22 children diagnosed with Autism before age 5, and 44 neurotypical controls from the Cork Baseline Birth Cohort. LC-MS analysis was performed using an ACQUITY ultra performance liquid chromatography (Waters Corp, Milford, MA) coupled with a Synapt G2-S quadrupole time-of-flight (UPLC-Q-TOF) mass spectrometer (Waters Corp, Wilmslow, UK). MSE data were uploaded onto Progenesis QI 2.4 software (Nonlinear Dynamics, Newcastle, U.K.) for peak picking and alignment. Data were normalized to ‘All Compounds’ and the coefficient of variation (CV) was computed for each compound across all QC runs (n=8) to evaluate repeatability of measurement. Compounds with > 20% CV within the QCs were removed. Any compound which had >30% missing values across the entire sample set or >30% in either subgroup (case or control) was removed. Remaining features (429 negative mode, 1353 positive mode) were log2 transformed and normalised on the median values. Mann-Whitney U tests for significant differences between cases and controls were then carried out and corrected for false discovery rate (FDR) using the Benjamini-Hochberg procedure. Altered metabolites (p < 0.05) were uploaded to Metaboanalyst (v6.0) to identify key metabolic pathways implicated. We identified 32 metabolites as significantly altered between cases and controls (see A. Noone et al. 2025, and supplementary data).