Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium / Tian ZHANG in Autism Research, 12-4 (April 2019)  

Public ISBD [article]  inAutism Research > 12-4 (April 2019) . - p.553-561 Titre : Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium Type de document : texte imprimé Auteurs : Tian ZHANG, Auteur ; Jishui ZHANG, Auteur ; Ziqi WANG, Auteur ; Meixiang JIA, Auteur ; Tianlan LU, Auteur ; Han WANG, Auteur ; Weihua YUE, Auteur ; Dai ZHANG, Auteur ; Jun LI, Auteur ; Lifang WANG, Auteur Article en page(s) : p.553-561 Langues : Anglais (eng) Mots-clés : Cntnap2  Pgc  autism  meta-analysis  polymorphism Index. décimale : PER Périodiques Résumé : Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019, 12: 553-561. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In present family-based association study, no single-nucleotide polymorphisms (SNPs) were significantly associated with autism in the Chinese Han population. In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. However, the results showed no significant association. Therefore, our study suggested that CNTNAP2 polymorphisms might not be associated with autism. En ligne : https://dx.doi.org/10.1002/aur.2078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388 [article] Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium [texte imprimé] / Tian ZHANG, Auteur ; Jishui ZHANG, Auteur ; Ziqi WANG, Auteur ; Meixiang JIA, Auteur ; Tianlan LU, Auteur ; Han WANG, Auteur ; Weihua YUE, Auteur ; Dai ZHANG, Auteur ; Jun LI, Auteur ; Lifang WANG, Auteur . - p.553-561. Langues : Anglais (eng) in Autism Research > 12-4 (April 2019) . - p.553-561 Mots-clés : Cntnap2  Pgc  autism  meta-analysis  polymorphism Index. décimale : PER Périodiques Résumé : Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019, 12: 553-561. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In present family-based association study, no single-nucleotide polymorphisms (SNPs) were significantly associated with autism in the Chinese Han population. In the updated meta-analysis, the association between the two frequently reported SNPs (rs2710102 and rs7794745) in CNTNAP2 and the risk of ASD was explored. However, the results showed no significant association. Therefore, our study suggested that CNTNAP2 polymorphisms might not be associated with autism. En ligne : https://dx.doi.org/10.1002/aur.2078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=388

Association of birth weight with risk of autism: A systematic review and meta-analysis / Xueqian MA in Research in Autism Spectrum Disorders, 92 (April 2022)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 92 (April 2022) . - 101934 Titre : Association of birth weight with risk of autism: A systematic review and meta-analysis Type de document : texte imprimé Auteurs : Xueqian MA, Auteur ; Jishui ZHANG, Auteur ; Yi SU, Auteur ; Han LU, Auteur ; Jun LI, Auteur ; Lifang WANG, Auteur ; Shaomei SHANG, Auteur ; Weihua YUE, Auteur Article en page(s) : 101934 Langues : Anglais (eng) Mots-clés : Birth weight  Macrosomia  Autism  Meta-analysis Index. décimale : PER Périodiques Résumé : Background Low birth weight (LBW) has been reported to be a risk environmental factor for autism. However, the effects of normal birth weight (NBW) and macrosomia on autism have not been fully explored. This meta-analysis was conducted to explore the association between different birth weight levels and autism. Method A systematic search was conducted in PubMed, Embase, and Scopus prior to April 26, 2020. Results A total of 28 studies were recognized as eligible. A significantly increased risk of autism was observed in relation to LBW (OR = 1.63, 95 % CI = 1.48–1.81, P < 0.00001) and macrosomia (OR = 1.11, 95 % CI = 1.05–1.18, P = 0.0005). NBW was found to be associated with a reduced risk of autism (OR = 0.74, 95 % CI = 0.67−0.82, P < 0.00001). Conclusions LBW and macrosomia may increase the risk of autism, whereas NBW may reduce the risk of autism. En ligne : https://doi.org/10.1016/j.rasd.2022.101934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Association of birth weight with risk of autism: A systematic review and meta-analysis [texte imprimé] / Xueqian MA, Auteur ; Jishui ZHANG, Auteur ; Yi SU, Auteur ; Han LU, Auteur ; Jun LI, Auteur ; Lifang WANG, Auteur ; Shaomei SHANG, Auteur ; Weihua YUE, Auteur . - 101934. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 92 (April 2022) . - 101934 Mots-clés : Birth weight  Macrosomia  Autism  Meta-analysis Index. décimale : PER Périodiques Résumé : Background Low birth weight (LBW) has been reported to be a risk environmental factor for autism. However, the effects of normal birth weight (NBW) and macrosomia on autism have not been fully explored. This meta-analysis was conducted to explore the association between different birth weight levels and autism. Method A systematic search was conducted in PubMed, Embase, and Scopus prior to April 26, 2020. Results A total of 28 studies were recognized as eligible. A significantly increased risk of autism was observed in relation to LBW (OR = 1.63, 95 % CI = 1.48–1.81, P < 0.00001) and macrosomia (OR = 1.11, 95 % CI = 1.05–1.18, P = 0.0005). NBW was found to be associated with a reduced risk of autism (OR = 0.74, 95 % CI = 0.67−0.82, P < 0.00001). Conclusions LBW and macrosomia may increase the risk of autism, whereas NBW may reduce the risk of autism. En ligne : https://doi.org/10.1016/j.rasd.2022.101934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders / Kaiqin LI in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313 Titre : Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders Type de document : texte imprimé Auteurs : Kaiqin LI, Auteur ; Zhenghuan FANG, Auteur ; Guifang ZHAO, Auteur ; Bingshan LI, Auteur ; Chao CHEN, Auteur ; Lu XIA, Auteur ; Lifang WANG, Auteur ; Tengfei LUO, Auteur ; Xiaoming WANG, Auteur ; Ziqi WANG, Auteur ; Yi ZHANG, Auteur ; Yi JIANG, Auteur ; Qian PAN, Auteur ; Zhengmao HU, Auteur ; Hui GUO, Auteur ; Beisha TANG, Auteur ; Chaoyu LIU, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur ; Jun LI, Auteur Année de publication : 2022 Article en page(s) : p.1299-1313 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Genetic Predisposition to Disease  Humans  Intellectual Disability/genetics  Mutation  Phenotype  Schizophrenia  Candidate gene  De novo mutation  Expression pattern  Functional network  Neuropsychiatric disorder Index. décimale : PER Périodiques Résumé : The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance. En ligne : http://dx.doi.org/10.1007/s10803-021-05031-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders [texte imprimé] / Kaiqin LI, Auteur ; Zhenghuan FANG, Auteur ; Guifang ZHAO, Auteur ; Bingshan LI, Auteur ; Chao CHEN, Auteur ; Lu XIA, Auteur ; Lifang WANG, Auteur ; Tengfei LUO, Auteur ; Xiaoming WANG, Auteur ; Ziqi WANG, Auteur ; Yi ZHANG, Auteur ; Yi JIANG, Auteur ; Qian PAN, Auteur ; Zhengmao HU, Auteur ; Hui GUO, Auteur ; Beisha TANG, Auteur ; Chaoyu LIU, Auteur ; Zhongsheng SUN, Auteur ; Kun XIA, Auteur ; Jun LI, Auteur . - 2022 . - p.1299-1313. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313 Mots-clés : Autism Spectrum Disorder/genetics  Genetic Predisposition to Disease  Humans  Intellectual Disability/genetics  Mutation  Phenotype  Schizophrenia  Candidate gene  De novo mutation  Expression pattern  Functional network  Neuropsychiatric disorder Index. décimale : PER Périodiques Résumé : The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance. En ligne : http://dx.doi.org/10.1007/s10803-021-05031-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Depicting the composition of gut microbiota in children with tic disorders: an exploratory study / Wenjie XI in Journal of Child Psychology and Psychiatry, 62-10 (October 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-10 (October 2021) . - p.1246-1254 Titre : Depicting the composition of gut microbiota in children with tic disorders: an exploratory study Type de document : texte imprimé Auteurs : Wenjie XI, Auteur ; Xuefeng GAO, Auteur ; Huijun ZHAO, Auteur ; Xuerong LUO, Auteur ; Jun LI, Auteur ; Xinjie TAN, Auteur ; Lifang WANG, Auteur ; Jian-Bo ZHAO, Auteur ; Jing WANG, Auteur ; Guang YANG, Auteur ; Li-Ying LIU, Auteur ; Yang-Yang WANG, Auteur ; Lilhua PENG, Auteur ; Li-Ping ZOU, Auteur ; Yongjie YANG, Auteur Année de publication : 2021 Article en page(s) : p.1246-1254 Langues : Anglais (eng) Mots-clés : Bacteroides  Child  Gastrointestinal Microbiome  Humans  Prevotella  Ruminococcus  Streptococcus  Tic Disorders  dopamine receptor antagonists  gut microbiota  metabolic pathways  metagenomics Index. décimale : PER Périodiques Résumé : BACKGROUND: Symptom improvement in children with tic disorder (TD) following fecal microbiota transplantation led us to investigate the gut microbiota in TD. This exploratory study aims to depict the gut microbial profile in patients with TD and explore the impact of dopamine receptor antagonist (DRA) drugs on the composition and metabolic function of the gut microbiota. METHODS: The gut microbiota were profiled in fecal samples of 49 children with TD and 50 matched healthy controls (HC) using shotgun metagenomic sequencing. A random forest (RF) model was constructed using the gut bacterial species to distinguish TD from HC. Associations between clinical metadata and microbial abundance or function were analyzed using MaAsLin2 and Spearman correlation. RESULTS: The gut microbiota in children with TD was featured by higher abundances of Bacteroides plebeius and Ruminococcus lactaris (a potential pro-inflammatory taxon) and lower abundances of Prevotella stercorea and Streptococcus lutetiensis compared to HC. The constructed RF model accurately distinguished TD from HC based on the gut microbiota profile, resulting in an AUC of 0.884. Significant correlations were observed between tic symptom severity and the abundances of multiple bacterial species and gut microbiota metabolic functions. Multivariate analysis identified an upregulation of 4-aminobutanoate (GABA) degradation in the gut microbiota associated with TD status. The gut microbiota of DRA-treated TD children showed a distinct gut microbiota compared to the treatment-naïve group, represented by an increase in some potential enteric pathogens such as Escherichia coli, a decline in several species including Akkermansia muciniphila, and alterations in various metabolic functions. CONCLUSIONS: Bacterial species promoting inflammatory responses and those modulating neurotransmitters such as GABA may be involved in the pathogenesis of TD. The use of DRA drugs is likely to induce overgrowth of some enteric pathogens and alter the gut microbiota metabolism. En ligne : http://dx.doi.org/10.1111/jcpp.13409 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Depicting the composition of gut microbiota in children with tic disorders: an exploratory study [texte imprimé] / Wenjie XI, Auteur ; Xuefeng GAO, Auteur ; Huijun ZHAO, Auteur ; Xuerong LUO, Auteur ; Jun LI, Auteur ; Xinjie TAN, Auteur ; Lifang WANG, Auteur ; Jian-Bo ZHAO, Auteur ; Jing WANG, Auteur ; Guang YANG, Auteur ; Li-Ying LIU, Auteur ; Yang-Yang WANG, Auteur ; Lilhua PENG, Auteur ; Li-Ping ZOU, Auteur ; Yongjie YANG, Auteur . - 2021 . - p.1246-1254. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-10 (October 2021) . - p.1246-1254 Mots-clés : Bacteroides  Child  Gastrointestinal Microbiome  Humans  Prevotella  Ruminococcus  Streptococcus  Tic Disorders  dopamine receptor antagonists  gut microbiota  metabolic pathways  metagenomics Index. décimale : PER Périodiques Résumé : BACKGROUND: Symptom improvement in children with tic disorder (TD) following fecal microbiota transplantation led us to investigate the gut microbiota in TD. This exploratory study aims to depict the gut microbial profile in patients with TD and explore the impact of dopamine receptor antagonist (DRA) drugs on the composition and metabolic function of the gut microbiota. METHODS: The gut microbiota were profiled in fecal samples of 49 children with TD and 50 matched healthy controls (HC) using shotgun metagenomic sequencing. A random forest (RF) model was constructed using the gut bacterial species to distinguish TD from HC. Associations between clinical metadata and microbial abundance or function were analyzed using MaAsLin2 and Spearman correlation. RESULTS: The gut microbiota in children with TD was featured by higher abundances of Bacteroides plebeius and Ruminococcus lactaris (a potential pro-inflammatory taxon) and lower abundances of Prevotella stercorea and Streptococcus lutetiensis compared to HC. The constructed RF model accurately distinguished TD from HC based on the gut microbiota profile, resulting in an AUC of 0.884. Significant correlations were observed between tic symptom severity and the abundances of multiple bacterial species and gut microbiota metabolic functions. Multivariate analysis identified an upregulation of 4-aminobutanoate (GABA) degradation in the gut microbiota associated with TD status. The gut microbiota of DRA-treated TD children showed a distinct gut microbiota compared to the treatment-naïve group, represented by an increase in some potential enteric pathogens such as Escherichia coli, a decline in several species including Akkermansia muciniphila, and alterations in various metabolic functions. CONCLUSIONS: Bacterial species promoting inflammatory responses and those modulating neurotransmitters such as GABA may be involved in the pathogenesis of TD. The use of DRA drugs is likely to induce overgrowth of some enteric pathogens and alter the gut microbiota metabolism. En ligne : http://dx.doi.org/10.1111/jcpp.13409 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins / Jun LI in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.4 Titre : Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins Type de document : texte imprimé Auteurs : Jun LI, Auteur ; Guifang ZHAO, Auteur ; Xiaocai GAO, Auteur Article en page(s) : p.4 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Neurodevelopmental disorders are classified as diseases that cause abnormal functions of the brain or central nervous system. Children with neurodevelopmental disorders show impaired language and speech abilities, learning and memory damage, and poor motor skills. However, we still know very little about the molecular etiology of these disorders. Recent evidence implicates the bromodomain-containing proteins (BCPs) in the initiation and development of neurodevelopmental disorders. BCPs have a particular domain, the bromodomain (Brd), which was originally identified as specifically binding acetyl-lysine residues at the N-terminus of histone proteins in vitro and in vivo. Other domains of BCPs are responsible for binding partner proteins to form regulatory complexes. Once these complexes are assembled, BCPs alter chromosomal states and regulate gene expression. Some BCP complexes bind nucleosomes, are involved in basal transcription regulation, and influence the transcription of many genes. However, most BCPs are involved in targeting. For example, some BCPs function as a recruitment platform or scaffold through their Brds-binding targeting sites. Others are recruited to form a complex to bind the targeting sites of their partners. The regulation mediated by these proteins is especially critical during normal and abnormal development. Mutant BCPs or dysfunctional BCP-containing complexes are implicated in the initiation and development of neurodevelopmental disorders. However, the pathogenic molecular mechanisms are not fully understood. In this review, we focus on the roles of regulatory BCPs associated with neurodevelopmental disorders, including mental retardation, Fragile X syndrome (FRX), Williams syndrome (WS), Rett syndrome and Rubinstein-Taybi syndrome (RTS). A better understanding of the molecular pathogenesis, based upon the roles of BCPs, will lead to screening of targets for the treatment of neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-5-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins [texte imprimé] / Jun LI, Auteur ; Guifang ZHAO, Auteur ; Xiaocai GAO, Auteur . - p.4. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.4 Index. décimale : PER Périodiques Résumé : Neurodevelopmental disorders are classified as diseases that cause abnormal functions of the brain or central nervous system. Children with neurodevelopmental disorders show impaired language and speech abilities, learning and memory damage, and poor motor skills. However, we still know very little about the molecular etiology of these disorders. Recent evidence implicates the bromodomain-containing proteins (BCPs) in the initiation and development of neurodevelopmental disorders. BCPs have a particular domain, the bromodomain (Brd), which was originally identified as specifically binding acetyl-lysine residues at the N-terminus of histone proteins in vitro and in vivo. Other domains of BCPs are responsible for binding partner proteins to form regulatory complexes. Once these complexes are assembled, BCPs alter chromosomal states and regulate gene expression. Some BCP complexes bind nucleosomes, are involved in basal transcription regulation, and influence the transcription of many genes. However, most BCPs are involved in targeting. For example, some BCPs function as a recruitment platform or scaffold through their Brds-binding targeting sites. Others are recruited to form a complex to bind the targeting sites of their partners. The regulation mediated by these proteins is especially critical during normal and abnormal development. Mutant BCPs or dysfunctional BCP-containing complexes are implicated in the initiation and development of neurodevelopmental disorders. However, the pathogenic molecular mechanisms are not fully understood. In this review, we focus on the roles of regulatory BCPs associated with neurodevelopmental disorders, including mental retardation, Fragile X syndrome (FRX), Williams syndrome (WS), Rett syndrome and Rubinstein-Taybi syndrome (RTS). A better understanding of the molecular pathogenesis, based upon the roles of BCPs, will lead to screening of targets for the treatment of neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-5-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly / Chi Wai WONG in Autism Research, 11-8 (August 2018)  

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New approaches to investigating social gestures in autism spectrum disorder / Kenneth T. KISHIDA in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

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Refractive Status and Amblyopia Risk Factors in Chinese Children with Autism Spectrum Disorder / Jing WANG in Journal of Autism and Developmental Disorders, 48-5 (May 2018)  

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