Alteration of the fecal microbiota in Chinese children with autism spectrum disorder / Xinyan XIE in Autism Research, 15-6 (June 2022)  

Public ISBD [article]  inAutism Research > 15-6 (June 2022) . - p.996-1007 Titre : Alteration of the fecal microbiota in Chinese children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Xinyan XIE, Auteur ; Li LI, Auteur ; Xiaoqian WU, Auteur ; Fang HOU, Auteur ; Yanlin CHEN, Auteur ; Liuwei SHI, Auteur ; Qi LIU, Auteur ; Kaiheng ZHU, Auteur ; Qi JIANG, Auteur ; Yanan FENG, Auteur ; Pei XIAO, Auteur ; Jiajia ZHANG, Auteur ; Jianhua GONG, Auteur ; Ranran SONG, Auteur Article en page(s) : p.996-1007 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications  Bacteria/genetics  Case-Control Studies  Child  Dysbiosis/complications  Feces/microbiology  Humans  Microbiota  Phylogeny  Chinese Han population  autism spectrum disorder  children  gut microbiota Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is associated with altered gut microbiota. However, there has been little consensus on the altered bacterial species and studies have had small sample sizes. We aimed to identify the taxonomic composition and evaluate the changes in the fecal microbiota in Chinese children with ASD by using a relatively large sample size. We conducted a case-control study of 101 children with ASD and 103 healthy controls in China. Demographic information and fecal samples were collected, and the V3-V4 hypervariable regions of the bacterial 16S ribosomal RNA (rRNA) gene were sequenced. The alpha and beta diversities between the two groups were significantly different. After correcting for multiple comparisons, at the phylum level the relative abundances of Actinobacteria and Proteobacteria in the case group were significantly higher than those in the control group. The relative abundance of the Escherichia-Shigella genus in the case group was significantly higher than that of the control group, and the relative abundance of Blautia and unclassified_f__Lachnospiraceae in the control group were higher than that of the case group. Phylogenetic Investigation of Communities by Reconstruction of Unobserved States analysis showed that children with ASD may have disturbed functional pathways, such as amino acid metabolism, cofactor and vitamin metabolism, and the AMP-activated protein kinase signaling pathway. This study revealed the characteristics of the intestinal flora of Chinese children with ASD and provided further evidence of gut microbial dysbiosis in ASD. LAY SUMMARY: This study characterized the gut microbiota composition of 101 children with ASD and 103 healthy controls in China. The altered gut microbiota may contribute significantly to the risk of ASD, including significant increases in the relative abundances of Actinobacteria, Proteobacteria and Escherichia-Shigella and significant decrease of Blautia and unclassified_f__Lachnospiraceae. This study provided further evidence of gut microbial dysbiosis in ASD. En ligne : http://dx.doi.org/10.1002/aur.2718 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Alteration of the fecal microbiota in Chinese children with autism spectrum disorder [Texte imprimé et/ou numérique] / Xinyan XIE, Auteur ; Li LI, Auteur ; Xiaoqian WU, Auteur ; Fang HOU, Auteur ; Yanlin CHEN, Auteur ; Liuwei SHI, Auteur ; Qi LIU, Auteur ; Kaiheng ZHU, Auteur ; Qi JIANG, Auteur ; Yanan FENG, Auteur ; Pei XIAO, Auteur ; Jiajia ZHANG, Auteur ; Jianhua GONG, Auteur ; Ranran SONG, Auteur . - p.996-1007. Langues : Anglais (eng) in Autism Research > 15-6 (June 2022) . - p.996-1007 Mots-clés : Autism Spectrum Disorder/complications  Bacteria/genetics  Case-Control Studies  Child  Dysbiosis/complications  Feces/microbiology  Humans  Microbiota  Phylogeny  Chinese Han population  autism spectrum disorder  children  gut microbiota Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is associated with altered gut microbiota. However, there has been little consensus on the altered bacterial species and studies have had small sample sizes. We aimed to identify the taxonomic composition and evaluate the changes in the fecal microbiota in Chinese children with ASD by using a relatively large sample size. We conducted a case-control study of 101 children with ASD and 103 healthy controls in China. Demographic information and fecal samples were collected, and the V3-V4 hypervariable regions of the bacterial 16S ribosomal RNA (rRNA) gene were sequenced. The alpha and beta diversities between the two groups were significantly different. After correcting for multiple comparisons, at the phylum level the relative abundances of Actinobacteria and Proteobacteria in the case group were significantly higher than those in the control group. The relative abundance of the Escherichia-Shigella genus in the case group was significantly higher than that of the control group, and the relative abundance of Blautia and unclassified_f__Lachnospiraceae in the control group were higher than that of the case group. Phylogenetic Investigation of Communities by Reconstruction of Unobserved States analysis showed that children with ASD may have disturbed functional pathways, such as amino acid metabolism, cofactor and vitamin metabolism, and the AMP-activated protein kinase signaling pathway. This study revealed the characteristics of the intestinal flora of Chinese children with ASD and provided further evidence of gut microbial dysbiosis in ASD. LAY SUMMARY: This study characterized the gut microbiota composition of 101 children with ASD and 103 healthy controls in China. The altered gut microbiota may contribute significantly to the risk of ASD, including significant increases in the relative abundances of Actinobacteria, Proteobacteria and Escherichia-Shigella and significant decrease of Blautia and unclassified_f__Lachnospiraceae. This study provided further evidence of gut microbial dysbiosis in ASD. En ligne : http://dx.doi.org/10.1002/aur.2718 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population / Fang HOU in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.67-72 Titre : Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population Type de document : Texte imprimé et/ou numérique Auteurs : Fang HOU, Auteur ; Li LI, Auteur ; Jianhua GONG, Auteur ; Yanlin CHEN, Auteur ; Jia WANG, Auteur ; Lingfei LIU, Auteur ; Xiu LUO, Auteur ; HuaiTing GU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur Article en page(s) : p.67-72 Langues : Anglais (eng) Mots-clés : Polymorphism  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Recently, synaptic abnormality has been proved to have a strong association with the etiology of ASD. PSD95 and DLGAP2 are the members of postsynaptic scaffolding proteins that play crucial roles in synaptic plasticity and function. This study evaluated the association of the genetic variants in PSD95 and DLGAP2 with ASD. Methods We performed a case-control study in a Chinese population with samples of 529 cases and 1923 controls. We extracted genomic DNA from oral swabs and determined the SNP genotypes by using a PCR-RFLP assay. Results We sequenced five SNPs (rs7005715, rs2301963 and rs2906569 in DLGAP2; rs2521985 and rs2017365 in PSD95). Genetic analysis suggested the GA genotype and GG genotype of rs7005715 were significantly associated with increased risk of ASD (respectively: OR?=?1.357, 95%CI?=?1.103–1.669, P?=?0.016; OR?=?1.860, 95%CI?=?1.359–2.551, P? En ligne : https://doi.org/10.1016/j.rasd.2018.06.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population [Texte imprimé et/ou numérique] / Fang HOU, Auteur ; Li LI, Auteur ; Jianhua GONG, Auteur ; Yanlin CHEN, Auteur ; Jia WANG, Auteur ; Lingfei LIU, Auteur ; Xiu LUO, Auteur ; HuaiTing GU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur . - p.67-72. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.67-72 Mots-clés : Polymorphism  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Recently, synaptic abnormality has been proved to have a strong association with the etiology of ASD. PSD95 and DLGAP2 are the members of postsynaptic scaffolding proteins that play crucial roles in synaptic plasticity and function. This study evaluated the association of the genetic variants in PSD95 and DLGAP2 with ASD. Methods We performed a case-control study in a Chinese population with samples of 529 cases and 1923 controls. We extracted genomic DNA from oral swabs and determined the SNP genotypes by using a PCR-RFLP assay. Results We sequenced five SNPs (rs7005715, rs2301963 and rs2906569 in DLGAP2; rs2521985 and rs2017365 in PSD95). Genetic analysis suggested the GA genotype and GG genotype of rs7005715 were significantly associated with increased risk of ASD (respectively: OR?=?1.357, 95%CI?=?1.103–1.669, P?=?0.016; OR?=?1.860, 95%CI?=?1.359–2.551, P? En ligne : https://doi.org/10.1016/j.rasd.2018.06.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder / Xinyan XIE in Autism Research, 14-4 (April 2021)  

Public ISBD [article]  inAutism Research > 14-4 (April 2021) . - p.631-644 Titre : Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Xinyan XIE, Auteur ; Li LI, Auteur ; Hao WU, Auteur ; Fang HOU, Auteur ; Yanlin CHEN, Auteur ; Qi XUE, Auteur ; Yu ZHOU, Auteur ; Jiajia ZHANG, Auteur ; Jianhua GONG, Auteur ; Ranran SONG, Auteur Article en page(s) : p.631-644 Langues : Anglais (eng) Mots-clés : Tigd5  autism spectrum disorder  integrative analysis  polymorphism  rs75547282 Index. décimale : PER Périodiques Résumé : Although recent genome-wide association studies have identified risk loci that strongly associates with autism spectrum disorder (ASD), how to pinpoint the causal genes remains a challenge. We aimed to pinpoint the potential causal genes and explore the possible susceptibility and mechanism. A convergent functional genomics (CFG) method was used to prioritize the candidate genes by combining lines of evidence, including Sherlock analysis, spatio-temporal expression patterns, expression analysis, protein-protein interactions, co-expression and association with brain structure. A higher score in the CFG approach suggested that more evidence supported this gene as an ASD risk gene. We screened genes with higher CFG scores for candidate functional single nucleotide polymorphisms (SNPs). A genotyping experiment (602 ASD children and 604 healthy sex-matched children) and the dual-luciferase reporter gene assay were followed to validate the effects of SNPs. We identified three genes (MAPT, ZNF285, and TIGD5) as candidate causal genes using the CFG approach. The genotyping experiment showed that TIGD5 rs75547282 was associated with an increased risk of ASD under the dominant model (OR = 1.37, 95% CI = 1.09-1.72, P = 0.006) though the statistical power was limited (5.2%). The T allele of rs75547282 activated the expression of TIGD5 compared with the C allele in the dual-luciferase reporter assay. Our study indicates that such comprehensive integrative analyses may be an effective way to explore promising ASD susceptibility variants and needs to be further investigated in future research. Genotyping experiments should, however, be based on a larger population sample to increase statistical power. LAY SUMMARY: We set out to pinpoint the potential causal genes of ASD and explore the possible susceptibility and mechanism by combining lines of evidence from different analyses. Our results show that TIGD5 rs75547282 is associated with the risk of ASD in the Han Chinese population. In addition, a similar framework to seek promising ASD risk variants could be further investigated in future research Autism Res 2021, 14: 631-644. © 2021 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2466 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443 [article] Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Xinyan XIE, Auteur ; Li LI, Auteur ; Hao WU, Auteur ; Fang HOU, Auteur ; Yanlin CHEN, Auteur ; Qi XUE, Auteur ; Yu ZHOU, Auteur ; Jiajia ZHANG, Auteur ; Jianhua GONG, Auteur ; Ranran SONG, Auteur . - p.631-644. Langues : Anglais (eng) in Autism Research > 14-4 (April 2021) . - p.631-644 Mots-clés : Tigd5  autism spectrum disorder  integrative analysis  polymorphism  rs75547282 Index. décimale : PER Périodiques Résumé : Although recent genome-wide association studies have identified risk loci that strongly associates with autism spectrum disorder (ASD), how to pinpoint the causal genes remains a challenge. We aimed to pinpoint the potential causal genes and explore the possible susceptibility and mechanism. A convergent functional genomics (CFG) method was used to prioritize the candidate genes by combining lines of evidence, including Sherlock analysis, spatio-temporal expression patterns, expression analysis, protein-protein interactions, co-expression and association with brain structure. A higher score in the CFG approach suggested that more evidence supported this gene as an ASD risk gene. We screened genes with higher CFG scores for candidate functional single nucleotide polymorphisms (SNPs). A genotyping experiment (602 ASD children and 604 healthy sex-matched children) and the dual-luciferase reporter gene assay were followed to validate the effects of SNPs. We identified three genes (MAPT, ZNF285, and TIGD5) as candidate causal genes using the CFG approach. The genotyping experiment showed that TIGD5 rs75547282 was associated with an increased risk of ASD under the dominant model (OR = 1.37, 95% CI = 1.09-1.72, P = 0.006) though the statistical power was limited (5.2%). The T allele of rs75547282 activated the expression of TIGD5 compared with the C allele in the dual-luciferase reporter assay. Our study indicates that such comprehensive integrative analyses may be an effective way to explore promising ASD susceptibility variants and needs to be further investigated in future research. Genotyping experiments should, however, be based on a larger population sample to increase statistical power. LAY SUMMARY: We set out to pinpoint the potential causal genes of ASD and explore the possible susceptibility and mechanism by combining lines of evidence from different analyses. Our results show that TIGD5 rs75547282 is associated with the risk of ASD in the Han Chinese population. In addition, a similar framework to seek promising ASD risk variants could be further investigated in future research Autism Res 2021, 14: 631-644. © 2021 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2466 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443

Interaction between XRN2 mutation and gut microbiota on the risks of autism spectrum disorder / Quan ZHANG ; Yanlin CHEN ; Fang HOU ; Kaiheng ZHU ; Qi JIANG ; Pei XIAO ; Zhen XIANG ; Xvfang WU ; Yixi FAN ; Xinyan XIE ; Li LI ; Ranran SONG in Research in Autism Spectrum Disorders, 110 (February 2024)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 110 (February 2024) . - p.102297 Titre : Interaction between XRN2 mutation and gut microbiota on the risks of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Quan ZHANG, Auteur ; Yanlin CHEN, Auteur ; Fang HOU, Auteur ; Kaiheng ZHU, Auteur ; Qi JIANG, Auteur ; Pei XIAO, Auteur ; Zhen XIANG, Auteur ; Xvfang WU, Auteur ; Yixi FAN, Auteur ; Xinyan XIE, Auteur ; Li LI, Auteur ; Ranran SONG, Auteur Article en page(s) : p.102297 Mots-clés : Autism spectrum disorder  Gut microbiota  School children  Genetic variant Index. décimale : PER Périodiques Résumé : Background The intestinal dysbiosis can be observed in patients with autism spectrum disorder (ASD), partly explained by the alteration in gut microbiota composition. Our study aims to screen ASD causal variants and explore the potential interaction between variants and gut microbiota. Methods We conducted the expression quantitative trait loci (eQTL) analysis to identify variations that regulated the expression of the ASD risk gene XRN2, and then validated genetic susceptibility to ASD risk in the case-control study among 627 ASD children and 606 healthy controls. The fecal samples were analyzed by 16S rRNA sequencing. Logistic regression model analysis was conducted to examine the interaction. Results We identified that rs2295412 was a cis-eQTL of XRN2 in brain tissues (P < 0.0005), And individuals with rs2295412 TC genotypes had decreased ASD risks compared to the TT genotype (OR = 0.42, 95% CI: 0.19?0.94, P = 0.036). And rs2295412 genotypes and the abundance of f__Monoglobaceae showed the interaction on the ASD risks (Pmul = 0.049). Compared to the children with a higher abundance of f__Monoglobaceae and rs2295412 CT+CC genotype, the children with a lower abundance and TT genotype might have higher ASD risks. Conclusions These findings suggested the potential interaction between genetic variation and gut microbiota on ASD risks, which enhanced the understanding of pathogenic mechanisms and the underlying etiology of ASD, and provided clues for future investigations. En ligne : https://doi.org/10.1016/j.rasd.2023.102297 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Interaction between XRN2 mutation and gut microbiota on the risks of autism spectrum disorder [Texte imprimé et/ou numérique] / Quan ZHANG, Auteur ; Yanlin CHEN, Auteur ; Fang HOU, Auteur ; Kaiheng ZHU, Auteur ; Qi JIANG, Auteur ; Pei XIAO, Auteur ; Zhen XIANG, Auteur ; Xvfang WU, Auteur ; Yixi FAN, Auteur ; Xinyan XIE, Auteur ; Li LI, Auteur ; Ranran SONG, Auteur . - p.102297. in Research in Autism Spectrum Disorders > 110 (February 2024) . - p.102297 Mots-clés : Autism spectrum disorder  Gut microbiota  School children  Genetic variant Index. décimale : PER Périodiques Résumé : Background The intestinal dysbiosis can be observed in patients with autism spectrum disorder (ASD), partly explained by the alteration in gut microbiota composition. Our study aims to screen ASD causal variants and explore the potential interaction between variants and gut microbiota. Methods We conducted the expression quantitative trait loci (eQTL) analysis to identify variations that regulated the expression of the ASD risk gene XRN2, and then validated genetic susceptibility to ASD risk in the case-control study among 627 ASD children and 606 healthy controls. The fecal samples were analyzed by 16S rRNA sequencing. Logistic regression model analysis was conducted to examine the interaction. Results We identified that rs2295412 was a cis-eQTL of XRN2 in brain tissues (P < 0.0005), And individuals with rs2295412 TC genotypes had decreased ASD risks compared to the TT genotype (OR = 0.42, 95% CI: 0.19?0.94, P = 0.036). And rs2295412 genotypes and the abundance of f__Monoglobaceae showed the interaction on the ASD risks (Pmul = 0.049). Compared to the children with a higher abundance of f__Monoglobaceae and rs2295412 CT+CC genotype, the children with a lower abundance and TT genotype might have higher ASD risks. Conclusions These findings suggested the potential interaction between genetic variation and gut microbiota on ASD risks, which enhanced the understanding of pathogenic mechanisms and the underlying etiology of ASD, and provided clues for future investigations. En ligne : https://doi.org/10.1016/j.rasd.2023.102297 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

Neurexin gene family variants as risk factors for autism spectrum disorder / Jia WANG in Autism Research, 11-1 (January 2018)  

Public ISBD [article]  inAutism Research > 11-1 (January 2018) . - p.37-43 Titre : Neurexin gene family variants as risk factors for autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jia WANG, Auteur ; Jianhua GONG, Auteur ; Li LI, Auteur ; Yanlin CHEN, Auteur ; Lingfei LIU, Auteur ; HuaiTing GU, Auteur ; Xiu LUO, Auteur ; Fang HOU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur Article en page(s) : p.37-43 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Increasing evidence suggests that abnormal synaptic function leads to neuronal developmental disorders and is an important component of the etiology of autism spectrum disorder (ASD). Neurexins are presynaptic cell?adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals. Thus, neurexins are attractive candidate genes for autism. Since gene families have greater power to reveal genetic association than single genes, we designed this case?control study to investigate six genetic variants in three neurexin genes (NRXN1, NRXN2, and NRXN3) in a Chinese population including 529 ASD patients and 1,923 healthy controls. We found that two SNPs were significantly associated with ASD after false discovery rate (FDR) adjustment for multiple comparisons. The NRXN2 rs12273892 polymorphism T allele and AT genotype were significantly associated with increased risk of ASD (respectively: OR?=?1.328, 95% CI?=?1.133–1.557, P? En ligne : https://doi.org/10.1002/aur.1881 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333 [article] Neurexin gene family variants as risk factors for autism spectrum disorder [Texte imprimé et/ou numérique] / Jia WANG, Auteur ; Jianhua GONG, Auteur ; Li LI, Auteur ; Yanlin CHEN, Auteur ; Lingfei LIU, Auteur ; HuaiTing GU, Auteur ; Xiu LUO, Auteur ; Fang HOU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur . - p.37-43. Langues : Anglais (eng) in Autism Research > 11-1 (January 2018) . - p.37-43 Index. décimale : PER Périodiques Résumé : Increasing evidence suggests that abnormal synaptic function leads to neuronal developmental disorders and is an important component of the etiology of autism spectrum disorder (ASD). Neurexins are presynaptic cell?adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals. Thus, neurexins are attractive candidate genes for autism. Since gene families have greater power to reveal genetic association than single genes, we designed this case?control study to investigate six genetic variants in three neurexin genes (NRXN1, NRXN2, and NRXN3) in a Chinese population including 529 ASD patients and 1,923 healthy controls. We found that two SNPs were significantly associated with ASD after false discovery rate (FDR) adjustment for multiple comparisons. The NRXN2 rs12273892 polymorphism T allele and AT genotype were significantly associated with increased risk of ASD (respectively: OR?=?1.328, 95% CI?=?1.133–1.557, P? En ligne : https://doi.org/10.1002/aur.1881 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333

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