刘星吟等:自闭症基因变异与肠道菌群的关系
  • 纳入自闭症(ASD)和健康儿童各26名进行全外显子测序,分析ASD相关单核苷酸变异(SNV)与肠道菌群的相互作用;
  • ASD相关SNV主要富集于先天免疫应答、蛋白质糖基化过程和类视黄醇代谢相关的基因中;
  • ASD相关SNV与肠道菌群的组成和功能(尤其是代谢)相关;
  • 参与神经递质代谢网络的一些代谢物的丰度,与特定的SNV和微生物之间存在因果关系;
  • 宿主遗传与肠道微生物之间的互作,可能在ASD的免疫和代谢稳态中起重要作用。
主编推荐语
mildbreeze
自闭症谱系障碍(ASD)与肠道菌群和遗传因素都有关联。Gut Microbes近期发表了来自南京医科大学刘星吟团队的研究,重点分析了ASD相关的遗传变异与肠道菌群组成和功能之间的关系,为研究遗传与菌群的互作在ASD疾病机制中的作用带来新启示。
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Gut Microbes [IF:9.434]

Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines

自闭症谱系障碍的基因变异与肠道菌群、代谢产物和细胞因子的改变有关

10.1080/19490976.2020.1854967

2021-01-08, Article

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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.

First Authors:
Zhi Liu,Xuhua Mao

Correspondence Authors:
Xingyin Liu

All Authors:
Zhi Liu,Xuhua Mao,Zhou Dan,Yang Pei,Rui Xu,Mengchen Guo,Kangjian Liu,Faming Zhang,Junyu Chen,Chuan Su,Yaoyao Zhuang,Junming Tang,Yankai Xia,Lianhong Qin,Zhibin Hu,Xingyin Liu

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