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4 recherche sur le mot-clé 'Gwas'




Assessing the causal association between celiac disease and autism spectrum disorder: A two-sample Mendelian randomization approach / Abiodun Fatoba ; Claire Simpson in Autism Research, 18-1 (January 2025)
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Titre : Assessing the causal association between celiac disease and autism spectrum disorder: A two-sample Mendelian randomization approach : Autism Research Type de document : Texte imprimé et/ou numérique Auteurs : Abiodun Fatoba, Auteur ; Claire Simpson, Auteur Article en page(s) : p.195-201 Langues : Anglais (eng) Mots-clés : autism spectrum disorder celiac disease GWAS instrument-variables Mendelian randomization single nucleotide polymorphisms Index. décimale : PER Périodiques Résumé : Abstract The association between celiac disease (CD) and autism spectrum disorder (ASD) remains inconclusive. Reports from different observational studies have become controversial, necessitating exploration of the causal relationship between CD and ASD. To assess true causality, this study used a two-sample Mendelian randomization (MR) analysis to determine the causal association between CD and ASD. Summary-level data from a genome-wide association study (GWAS) of the European population were used to select instrument variables (IVs) at genome-wide significance (p?5???10?8). The strength of IVs was also evaluated with F-statistics. The inverse variance weighted method (IVW) was the primary MR analysis, supported by other MR tests such as the weighted median method and weighted mode. The presence of horizontal pleiotropy was tested with MR-Egger and MR-PRESSO while other sensitivity analyses such as heterogeneity, leave-one-out analysis, and scatterplot were used to assess the validity of our MR results. Our study did not show an association between CD and ASD (OR, 0.994; 95% CI, 0.935?1.057; p?=?0.859). There was also no evidence of horizontal pleiotropy (MR-Egger intercept?=?0.015; p-value?=?0.223) and heterogeneity (Q?=?14.029; p-value?=?0.051). These results were also complemented by the leave-one-out analyses, forest plot, and scatter plot, which showed that none of the SNPs influenced the result. The result of this study shows that CD is not causally associated with ASD. En ligne : https://doi.org/10.1002/aur.3257 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546
in Autism Research > 18-1 (January 2025) . - p.195-201[article] Assessing the causal association between celiac disease and autism spectrum disorder: A two-sample Mendelian randomization approach : Autism Research [Texte imprimé et/ou numérique] / Abiodun Fatoba, Auteur ; Claire Simpson, Auteur . - p.195-201.
Langues : Anglais (eng)
in Autism Research > 18-1 (January 2025) . - p.195-201
Mots-clés : autism spectrum disorder celiac disease GWAS instrument-variables Mendelian randomization single nucleotide polymorphisms Index. décimale : PER Périodiques Résumé : Abstract The association between celiac disease (CD) and autism spectrum disorder (ASD) remains inconclusive. Reports from different observational studies have become controversial, necessitating exploration of the causal relationship between CD and ASD. To assess true causality, this study used a two-sample Mendelian randomization (MR) analysis to determine the causal association between CD and ASD. Summary-level data from a genome-wide association study (GWAS) of the European population were used to select instrument variables (IVs) at genome-wide significance (p?5???10?8). The strength of IVs was also evaluated with F-statistics. The inverse variance weighted method (IVW) was the primary MR analysis, supported by other MR tests such as the weighted median method and weighted mode. The presence of horizontal pleiotropy was tested with MR-Egger and MR-PRESSO while other sensitivity analyses such as heterogeneity, leave-one-out analysis, and scatterplot were used to assess the validity of our MR results. Our study did not show an association between CD and ASD (OR, 0.994; 95% CI, 0.935?1.057; p?=?0.859). There was also no evidence of horizontal pleiotropy (MR-Egger intercept?=?0.015; p-value?=?0.223) and heterogeneity (Q?=?14.029; p-value?=?0.051). These results were also complemented by the leave-one-out analyses, forest plot, and scatter plot, which showed that none of the SNPs influenced the result. The result of this study shows that CD is not causally associated with ASD. En ligne : https://doi.org/10.1002/aur.3257 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546 Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder / H. PEYRE in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
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Titre : Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : H. PEYRE, Auteur ; T. SCHOELER, Auteur ; C. LIU, Auteur ; C. M. WILLIAMS, Auteur ; N. HOERTEL, Auteur ; A. HAVDAHL, Auteur ; J. B. PINGAULT, Auteur Article en page(s) : p.1285-1296 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology/genetics Autism Spectrum Disorder/epidemiology/genetics Comorbidity Genome-Wide Association Study Genomics Humans Paired Box Transcription Factors/genetics Polymorphism, Single Nucleotide Repressor Proteins/genetics Autism spectrum disorder Gwas Snp attention deficit hyperactivity disorder colocalization common genetic variants comorbidity genomic structural equation modelling Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. En ligne : http://dx.doi.org/10.1111/jcpp.13479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1285-1296[article] Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder [Texte imprimé et/ou numérique] / H. PEYRE, Auteur ; T. SCHOELER, Auteur ; C. LIU, Auteur ; C. M. WILLIAMS, Auteur ; N. HOERTEL, Auteur ; A. HAVDAHL, Auteur ; J. B. PINGAULT, Auteur . - p.1285-1296.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1285-1296
Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology/genetics Autism Spectrum Disorder/epidemiology/genetics Comorbidity Genome-Wide Association Study Genomics Humans Paired Box Transcription Factors/genetics Polymorphism, Single Nucleotide Repressor Proteins/genetics Autism spectrum disorder Gwas Snp attention deficit hyperactivity disorder colocalization common genetic variants comorbidity genomic structural equation modelling Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. En ligne : http://dx.doi.org/10.1111/jcpp.13479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Investigation of Maternal Genotype Effects in Autism by Genome-Wide Association / Han YUAN in Autism Research, 7-2 (April 2014)
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Titre : Investigation of Maternal Genotype Effects in Autism by Genome-Wide Association Type de document : Texte imprimé et/ou numérique Auteurs : Han YUAN, Auteur ; Joseph D. DOUGHERTY, Auteur Article en page(s) : p.245-253 Mots-clés : maternal genotype effect autism GWAS AGRE SSC Index. décimale : PER Périodiques Résumé : Like most psychiatric disorders, autism spectrum disorders have both a genetic and an environmental component. While previous studies have clearly demonstrated the contribution of in utero (prenatal) environment on autism risk, most of them focused on transient environmental factors. Based on a recent sibling study, we hypothesized that environmental factors could also come from the maternal genome, which would result in persistent effects across siblings. In this study, the possibility of maternal genotype effects was examined by looking for common variants (single-nucleotide polymorphisms or SNPs) in the maternal genome associated with increased risk of autism in children. A case/control genome-wide association study was performed using mothers of probands as cases, and either fathers of probands or normal females as controls. Autism Genetic Resource Exchange and Illumina Genotype Control Database were used as our discovery cohort (n?=?1616). The same analysis was then replicated on Simon Simplex Collection and Study of Addiction: Genetics and Environment datasets (n?=?2732). We did not identify any SNP that reached genome-wide significance (P??10?8), and thus a common variant of large effect is unlikely. However, there was evidence for the possibility of a large number of alleles of effective size marginally below our power to detect. En ligne : http://dx.doi.org/10.1002/aur.1363 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230
in Autism Research > 7-2 (April 2014) . - p.245-253[article] Investigation of Maternal Genotype Effects in Autism by Genome-Wide Association [Texte imprimé et/ou numérique] / Han YUAN, Auteur ; Joseph D. DOUGHERTY, Auteur . - p.245-253.
in Autism Research > 7-2 (April 2014) . - p.245-253
Mots-clés : maternal genotype effect autism GWAS AGRE SSC Index. décimale : PER Périodiques Résumé : Like most psychiatric disorders, autism spectrum disorders have both a genetic and an environmental component. While previous studies have clearly demonstrated the contribution of in utero (prenatal) environment on autism risk, most of them focused on transient environmental factors. Based on a recent sibling study, we hypothesized that environmental factors could also come from the maternal genome, which would result in persistent effects across siblings. In this study, the possibility of maternal genotype effects was examined by looking for common variants (single-nucleotide polymorphisms or SNPs) in the maternal genome associated with increased risk of autism in children. A case/control genome-wide association study was performed using mothers of probands as cases, and either fathers of probands or normal females as controls. Autism Genetic Resource Exchange and Illumina Genotype Control Database were used as our discovery cohort (n?=?1616). The same analysis was then replicated on Simon Simplex Collection and Study of Addiction: Genetics and Environment datasets (n?=?2732). We did not identify any SNP that reached genome-wide significance (P??10?8), and thus a common variant of large effect is unlikely. However, there was evidence for the possibility of a large number of alleles of effective size marginally below our power to detect. En ligne : http://dx.doi.org/10.1002/aur.1363 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 Simulated nonlinear genetic and environmental dynamics of complex traits / Michael D. HUNTER in Development and Psychopathology, 35-2 (May 2023)
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Titre : Simulated nonlinear genetic and environmental dynamics of complex traits Type de document : Texte imprimé et/ou numérique Auteurs : Michael D. HUNTER, Auteur ; Kevin L. MCKEE, Auteur ; Eric TURKHEIMER, Auteur Article en page(s) : p.662-677 Langues : Anglais (eng) Mots-clés : behavior genetics dynamical systems GWAS heritability simulation Index. décimale : PER Périodiques Résumé : Genetic studies of complex traits often show disparities in estimated heritability depending on the method used, whether by genomic associations or twin and family studies. We present a simulation of individual genomes with dynamic environmental conditions to consider how linear and nonlinear effects, gene-by-environment interactions, and gene-by-environment correlations may work together to govern the long-term development of complex traits and affect estimates of heritability from common methods. Our simulation studies demonstrate that the genetic effects estimated by genome wide association studies in unrelated individuals are inadequate to characterize gene-by-environment interaction, while including related individuals in genome-wide complex trait analysis (GCTA) allows gene-by-environment interactions to be recovered in the heritability. These theoretical findings provide an explanation for the ''missing heritability'' problem and bridge the conceptual gap between the most common findings of GCTA and twin studies. Future studies may use the simulation model to test hypotheses about phenotypic complexity either in an exploratory way or by replicating well-established observations of specific phenotypes. En ligne : http://dx.doi.org/10.1017/S0954579421001796 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=504
in Development and Psychopathology > 35-2 (May 2023) . - p.662-677[article] Simulated nonlinear genetic and environmental dynamics of complex traits [Texte imprimé et/ou numérique] / Michael D. HUNTER, Auteur ; Kevin L. MCKEE, Auteur ; Eric TURKHEIMER, Auteur . - p.662-677.
Langues : Anglais (eng)
in Development and Psychopathology > 35-2 (May 2023) . - p.662-677
Mots-clés : behavior genetics dynamical systems GWAS heritability simulation Index. décimale : PER Périodiques Résumé : Genetic studies of complex traits often show disparities in estimated heritability depending on the method used, whether by genomic associations or twin and family studies. We present a simulation of individual genomes with dynamic environmental conditions to consider how linear and nonlinear effects, gene-by-environment interactions, and gene-by-environment correlations may work together to govern the long-term development of complex traits and affect estimates of heritability from common methods. Our simulation studies demonstrate that the genetic effects estimated by genome wide association studies in unrelated individuals are inadequate to characterize gene-by-environment interaction, while including related individuals in genome-wide complex trait analysis (GCTA) allows gene-by-environment interactions to be recovered in the heritability. These theoretical findings provide an explanation for the ''missing heritability'' problem and bridge the conceptual gap between the most common findings of GCTA and twin studies. Future studies may use the simulation model to test hypotheses about phenotypic complexity either in an exploratory way or by replicating well-established observations of specific phenotypes. En ligne : http://dx.doi.org/10.1017/S0954579421001796 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=504