Bacterial genomic structural variations in children with autism serve as diagnostic biomarkers

Gut 2026 Open access

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Authors: Weixin Liu, Yunjin Lu, Siew C. Ng, Francis KL Chan, Joseph J.Y. Sung, Jun Yu
DOI: 10.1136/gutjnl-2025-337280
Cited by: 4
References: 47

Abstract

Background Gut microbiota dysbiosis is linked to autism spectrum disorder (ASD) in children. However, the role of bacterial genomic structural variations (SVs) in ASD remains largely unexplored. Objective We aimed to identify bacterial SVs associated with ASD and explore their mechanistic role and clinical application. Design We collected faecal metagenomes from 452 children (261 ASD, 191 neurotypical) across an in-house and seven public datasets. Using linear mixed-effects modelling, we identified ASD-associated SVs and compositional shifts and validated candidate SVs in humanised gut microbiome mice. Results We identified 100 bacterial SVs significantly associated with ASD (p

Fields of Study & Subjects

Gut microbiota and health Autism Spectrum Disorder Research Child Nutrition and Feeding Issues

Publication details

Journal / source
Gut
Publisher
BMJ
Volume
75
Issue
5
Pages
937–948
Publication date
26 February 2026
Language
EN