AI Article Synopsis

  • The study examines the connection between genetic variations and gut microbiota in children with Autism Spectrum Disorder (ASD), highlighting that while gut microbiota dysbiosis is linked to ASD, the specifics of this relationship with host genetics are not fully understood.
  • Whole-exon sequencing was conducted on 26 ASD children and 26 controls to identify single nucleotide variations (SNVs) and their associations with gut microbiota and metabolism.
  • Findings indicate that certain genetic variations are tied to immune response, metabolism, and microbiome composition, suggesting that the interplay between genetics and gut microbes could significantly influence the immune and metabolic health of individuals with ASD.

Article Abstract

The genetic variations and dysbiosis of gut microbiota are associated with ASD. However, the role of the microbiota in the etiology of ASD in terms of host genetic susceptibility remains unclear. This study aims to systematically explore the interplay between host genetic variation and gut microbiota in ASD children. Whole-exon sequencing was applied to 26 ASD children and 26 matched controls to identify the single nucleotide variations (SNVs) in ASD. Our previous study revealed alteration in gut microbiota and disorder of metabolism activity in ASD for this cohort. Systematic bioinformatic analyses were further performed to identify associations between SNVs and gut microbiota, as well as their metabolites. The ASD SNVs were significantly enriched in genes associated with innate immune response, protein glycosylation process, and retrograde axonal transport. These SNVs were also correlated with the microbiome composition and a broad aspect of microbial functions, especially metabolism. Additionally, the abundance of metabolites involved in the metabolic network of neurotransmitters was inferred to be causally related to specific SNVs and microbes. Furthermore, our data suggested that the interaction of host genetics and gut microbes may play a crucial role in the immune and metabolism homeostasis of ASD. This study may provide valuable clues to investigate the interaction of host genetic variations and gut microbiota in the pathogenesis of ASD.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808426PMC
http://dx.doi.org/10.1080/19490976.2020.1854967DOI Listing

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