Integrative Multi-Omics Analysis of Molecular Associations and Biological Pathways Underlying Neurodevelopmental Conditions in a Twin Cohort

Integrative multi-omics in the RATSS twin cohort identifies cross-omics features distinguishing twins with versus without neurodevelopmental conditions, converging on metabolic and immune-related pathways.

• Why it matters: Molecular signatures of neurodevelopmental conditions are incompletely defined despite genetic–environmental complexity, and multi-tissue, multi-layer evidence is needed to guide biomarker and mechanism work.
• What they did: In 237 Swedish twins aged 8–28, serum and cerebrospinal fluid proteomics, urine and fecal metabolomics, blood metallomics, and whole-genome sequencing in 14 monozygotic pairs were integrated using DIABLO, with single-molecule differential abundance tested via GEE.
• The result: Pathways enriched included purine metabolism, lysine degradation, PI3K-Akt, and MAPK signaling; ADA protein, thymidine, glutamine, 2'-deoxyuridine, and copper showed suggestive associations in NDC-discordant MZ pairs, while flavin mononucleotide and manganese were influenced by shared familial factors.

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