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

The association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders in children: a meta-analysis / Meiyun WANG in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 51p. Titre : The association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders in children: a meta-analysis Type de document : texte imprimé Auteurs : Meiyun WANG, Auteur ; Kaiqin LI, Auteur ; Dejian ZHAO, Auteur ; Ling LI, Auteur Article en page(s) : 51p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Children  Folic acid supplements  Maternal  Meta-analysis Index. décimale : PER Périodiques Résumé : Previous reviews have been conducted to evaluate the association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders (ASD) in children, with no definitive conclusion. We therefore conducted a more comprehensive meta-analysis to reassess the relationship between folic acid and the risk of ASD. The electronic databases PubMed, Web of Knowledge, and Wanfang Data were carefully searched to find eligible studies as recent as March 2017. A random effects model was used to combine the relative risk (RR) with 95% confidence intervals (CI). Sensitivity analysis and publication bias were conducted. A total of 12 articles with 16 studies comprising 4514 ASD cases were included in this report. It was found that supplementation with folic acid during pregnancy could reduce the risk of ASD [RR = 0.771, 95% CI = 0.641-0.928, I(2) = 59.7%, Pheterogeneity = 0.001] as compared to those women without folic acid supplementation. The associations were significant among Asian, European, and American populations. In summary, this comprehensive meta-analysis suggested that maternal use of folic acid supplements during pregnancy could significantly reduce the risk of ASD in children regardless of ethnicity, as compared to those women who did not supplement with folic acid. En ligne : http://dx.doi.org/10.1186/s13229-017-0170-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 [article] The association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders in children: a meta-analysis [texte imprimé] / Meiyun WANG, Auteur ; Kaiqin LI, Auteur ; Dejian ZHAO, Auteur ; Ling LI, Auteur . - 51p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 51p. Mots-clés : Autism spectrum disorders  Children  Folic acid supplements  Maternal  Meta-analysis Index. décimale : PER Périodiques Résumé : Previous reviews have been conducted to evaluate the association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders (ASD) in children, with no definitive conclusion. We therefore conducted a more comprehensive meta-analysis to reassess the relationship between folic acid and the risk of ASD. The electronic databases PubMed, Web of Knowledge, and Wanfang Data were carefully searched to find eligible studies as recent as March 2017. A random effects model was used to combine the relative risk (RR) with 95% confidence intervals (CI). Sensitivity analysis and publication bias were conducted. A total of 12 articles with 16 studies comprising 4514 ASD cases were included in this report. It was found that supplementation with folic acid during pregnancy could reduce the risk of ASD [RR = 0.771, 95% CI = 0.641-0.928, I(2) = 59.7%, Pheterogeneity = 0.001] as compared to those women without folic acid supplementation. The associations were significant among Asian, European, and American populations. In summary, this comprehensive meta-analysis suggested that maternal use of folic acid supplements during pregnancy could significantly reduce the risk of ASD in children regardless of ethnicity, as compared to those women who did not supplement with folic acid. En ligne : http://dx.doi.org/10.1186/s13229-017-0170-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331

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