8 recherche sur le mot-clé 'genes'

Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function / Emily L. CASANOVA in Autism Research, 12-6 (June 2019)  

Public ISBD [article]  inAutism Research > 12-6 (June 2019) . - p.860-869 Titre : Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function Type de document : texte imprimé Auteurs : Emily L. CASANOVA, Auteur ; Andrew E. SWITALA, Auteur ; Srini DANDAMUDI, Auteur ; Allison R. HICKMAN, Auteur ; Joshua VANDENBRINK, Auteur ; Julia L. SHARP, Auteur ; Frank Alex FELTUS, Auteur ; Manuel F. CASANOVA, Auteur Année de publication : 2019 Article en page(s) : p.860-869 Langues : Anglais (eng) Mots-clés : DNA transposons  central nervous system  developmental  genes  retroelements Index. décimale : PER Périodiques Résumé : Previous research on autism risk (ASD), developmental regulatory (DevReg), and central nervous system (CNS) genes suggests they tend to be large in size, enriched in nested repeats, and mutation intolerant. The relevance of these genomic features is intriguing yet poorly understood. In this study, we investigated the feature landscape of these gene groups to discover structural themes useful in interpreting their function, developmental patterns, and evolutionary history. ASD, DevReg, CNS, housekeeping, and whole genome control (WGC) groups were compiled using various resources. Multiple gene features of interest were extracted from NCBI/UCSC Bioinformatics. Residual variation intolerance scores, Exome Aggregation Consortium pLI scores, and copy number variation data from Decipher were used to estimate variation intolerance. Gene age and protein-protein interactions (PPI) were estimated using Ensembl and EBI Intact databases, respectively. Compared to WGC: ASD, DevReg, and CNS genes are longer, produce larger proteins, maintain greater numbers/density of conserved noncoding elements and transposable elements, produce more transcript variants, and are comparatively variation intolerant. After controlling for gene size, mutation tolerance, and clinical association, ASD genes still retain many of these same features. In addition, we also found that ASD genes that are extremely mutation intolerant have larger PPI networks. These data support many of the recent findings within the field of autism genetics but also expand our understanding of the evolution of these broad gene groups, their potential regulatory complexity, and the extent to which they interact with the cellular network. Autism Res 2019, 12: 860-869. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism risk genes are more ancient compared to other genes in the genome. As such, they exhibit physical features related to their age, including long gene and protein size and regulatory sequences that help to control gene expression. They share many of these same features with other genes that are expressed in the brain and/or are associated with prenatal development. En ligne : https://dx.doi.org/10.1002/aur.2112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function [texte imprimé] / Emily L. CASANOVA, Auteur ; Andrew E. SWITALA, Auteur ; Srini DANDAMUDI, Auteur ; Allison R. HICKMAN, Auteur ; Joshua VANDENBRINK, Auteur ; Julia L. SHARP, Auteur ; Frank Alex FELTUS, Auteur ; Manuel F. CASANOVA, Auteur . - 2019 . - p.860-869. Langues : Anglais (eng) in Autism Research > 12-6 (June 2019) . - p.860-869 Mots-clés : DNA transposons  central nervous system  developmental  genes  retroelements Index. décimale : PER Périodiques Résumé : Previous research on autism risk (ASD), developmental regulatory (DevReg), and central nervous system (CNS) genes suggests they tend to be large in size, enriched in nested repeats, and mutation intolerant. The relevance of these genomic features is intriguing yet poorly understood. In this study, we investigated the feature landscape of these gene groups to discover structural themes useful in interpreting their function, developmental patterns, and evolutionary history. ASD, DevReg, CNS, housekeeping, and whole genome control (WGC) groups were compiled using various resources. Multiple gene features of interest were extracted from NCBI/UCSC Bioinformatics. Residual variation intolerance scores, Exome Aggregation Consortium pLI scores, and copy number variation data from Decipher were used to estimate variation intolerance. Gene age and protein-protein interactions (PPI) were estimated using Ensembl and EBI Intact databases, respectively. Compared to WGC: ASD, DevReg, and CNS genes are longer, produce larger proteins, maintain greater numbers/density of conserved noncoding elements and transposable elements, produce more transcript variants, and are comparatively variation intolerant. After controlling for gene size, mutation tolerance, and clinical association, ASD genes still retain many of these same features. In addition, we also found that ASD genes that are extremely mutation intolerant have larger PPI networks. These data support many of the recent findings within the field of autism genetics but also expand our understanding of the evolution of these broad gene groups, their potential regulatory complexity, and the extent to which they interact with the cellular network. Autism Res 2019, 12: 860-869. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism risk genes are more ancient compared to other genes in the genome. As such, they exhibit physical features related to their age, including long gene and protein size and regulatory sequences that help to control gene expression. They share many of these same features with other genes that are expressed in the brain and/or are associated with prenatal development. En ligne : https://dx.doi.org/10.1002/aur.2112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

Disentangling genes, attachment, and environment: A systematic review of the developmental psychopathology literature on gene-environment interactions and attachment / Lisa GOLDS in Development and Psychopathology, 32-1 (February 2020)  

Public ISBD [article]  inDevelopment and Psychopathology > 32-1 (February 2020) . - p.357-381 Titre : Disentangling genes, attachment, and environment: A systematic review of the developmental psychopathology literature on gene-environment interactions and attachment Type de document : texte imprimé Auteurs : Lisa GOLDS, Auteur ; Karina DE KRUIFF, Auteur ; Angus MACBETH, Auteur Article en page(s) : p.357-381 Langues : Anglais (eng) Mots-clés : Gene x Environment  attachment  disorganization  genes Index. décimale : PER Périodiques Résumé : The role of genetics in relation to attachment is of continued interest to developmental psychology. Recent research has attempted to disentangle genetic main effects, environmental effects, and gene and environment (G x E) interactions in the development of attachment security/insecurity and disorganization. We systematically reviewed associations between gene markers and attachment, including G x E interactions, identifying 27 eligible studies. Inconsistent results emerged for associations between both gene effects and G x E interactions on attachment organization. Where G x E interactions used attachment as the environmental factor in the interaction, we observed more consistent results for differential susceptibility of G x E interactions on offspring behavior. Small sample size and heterogeneity in measurement of environmental factors impacted on comparability of studies. From these results, we propose that the future of research into the role of genetic effects in attachment lies in further exploration of G x E interactions, particularly where attachment acts as an environmental factor impacting on other child developmental outcomes emerging from the caregiving environment, consistent with differential susceptibility approaches to developmental psychopathology. In addition, from a methodological perspective, establishing the role of gene markers in such models will require a shift toward contemporary genomics, including genome-wide analysis (including novel genes and chromosomal loci), and epigenetic individual variations. En ligne : http://dx.doi.org/10.1017/s0954579419000142 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=416 [article] Disentangling genes, attachment, and environment: A systematic review of the developmental psychopathology literature on gene-environment interactions and attachment [texte imprimé] / Lisa GOLDS, Auteur ; Karina DE KRUIFF, Auteur ; Angus MACBETH, Auteur . - p.357-381. Langues : Anglais (eng) in Development and Psychopathology > 32-1 (February 2020) . - p.357-381 Mots-clés : Gene x Environment  attachment  disorganization  genes Index. décimale : PER Périodiques Résumé : The role of genetics in relation to attachment is of continued interest to developmental psychology. Recent research has attempted to disentangle genetic main effects, environmental effects, and gene and environment (G x E) interactions in the development of attachment security/insecurity and disorganization. We systematically reviewed associations between gene markers and attachment, including G x E interactions, identifying 27 eligible studies. Inconsistent results emerged for associations between both gene effects and G x E interactions on attachment organization. Where G x E interactions used attachment as the environmental factor in the interaction, we observed more consistent results for differential susceptibility of G x E interactions on offspring behavior. Small sample size and heterogeneity in measurement of environmental factors impacted on comparability of studies. From these results, we propose that the future of research into the role of genetic effects in attachment lies in further exploration of G x E interactions, particularly where attachment acts as an environmental factor impacting on other child developmental outcomes emerging from the caregiving environment, consistent with differential susceptibility approaches to developmental psychopathology. In addition, from a methodological perspective, establishing the role of gene markers in such models will require a shift toward contemporary genomics, including genome-wide analysis (including novel genes and chromosomal loci), and epigenetic individual variations. En ligne : http://dx.doi.org/10.1017/s0954579419000142 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=416

Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder / Philip R. BALDWIN in Autism Research, 9-5 (May 2016)  

Public ISBD [article]  inAutism Research > 9-5 (May 2016) . - p.553-562 Titre : Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder Type de document : texte imprimé Auteurs : Philip R. BALDWIN, Auteur ; Kaylah N. CURTIS, Auteur ; Michelle A. PATRIQUIN, Auteur ; Varina WOLF, Auteur ; Humsini VISWANATH, Auteur ; Chad SHAW, Auteur ; Yasunari SAKAI, Auteur ; Ramiro SALAS, Auteur Article en page(s) : p.553-562 Langues : Anglais (eng) Mots-clés : autism  brain  connectivity  genes  genetic data mining  neuroimaging  resting state  restricted and repetitive behaviors Index. décimale : PER Périodiques Résumé : Exome sequencing and copy number variation analyses continue to provide novel insight to the biological bases of autism spectrum disorder (ASD). The growing speed at which massive genetic data are produced causes serious lags in analysis and interpretation of the data. Thus, there is a need to develop systematic genetic data mining processes that facilitate efficient analysis of large datasets. We report a new genetic data mining system, ProcessGeneLists and integrated a list of ASD-related genes with currently available resources in gene expression and functional connectivity of the human brain. Our data-mining program successfully identified three primary regions of interest (ROIs) in the mouse brain: inferior colliculus, ventral posterior complex of the thalamus (VPC), and parafascicular nucleus (PFn). To understand its pathogenic relevance in ASD, we examined the resting state functional connectivity (RSFC) of the homologous ROIs in human brain with other brain regions that were previously implicated in the neuro-psychiatric features of ASD. Among them, the RSFC of the VPC with the medial frontal gyrus (MFG) was significantly more anticorrelated, whereas the RSFC of the PN with the globus pallidus was significantly increased in children with ASD compared with healthy children. Moreover, greater values of RSFC between VPC and MFG were correlated with severity index and repetitive behaviors in children with ASD. No significant RSFC differences were detected in adults with ASD. Together, these data demonstrate the utility of our data-mining program through identifying the aberrant connectivity of thalamo-cortical circuits in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1559 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289 [article] Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder [texte imprimé] / Philip R. BALDWIN, Auteur ; Kaylah N. CURTIS, Auteur ; Michelle A. PATRIQUIN, Auteur ; Varina WOLF, Auteur ; Humsini VISWANATH, Auteur ; Chad SHAW, Auteur ; Yasunari SAKAI, Auteur ; Ramiro SALAS, Auteur . - p.553-562. Langues : Anglais (eng) in Autism Research > 9-5 (May 2016) . - p.553-562 Mots-clés : autism  brain  connectivity  genes  genetic data mining  neuroimaging  resting state  restricted and repetitive behaviors Index. décimale : PER Périodiques Résumé : Exome sequencing and copy number variation analyses continue to provide novel insight to the biological bases of autism spectrum disorder (ASD). The growing speed at which massive genetic data are produced causes serious lags in analysis and interpretation of the data. Thus, there is a need to develop systematic genetic data mining processes that facilitate efficient analysis of large datasets. We report a new genetic data mining system, ProcessGeneLists and integrated a list of ASD-related genes with currently available resources in gene expression and functional connectivity of the human brain. Our data-mining program successfully identified three primary regions of interest (ROIs) in the mouse brain: inferior colliculus, ventral posterior complex of the thalamus (VPC), and parafascicular nucleus (PFn). To understand its pathogenic relevance in ASD, we examined the resting state functional connectivity (RSFC) of the homologous ROIs in human brain with other brain regions that were previously implicated in the neuro-psychiatric features of ASD. Among them, the RSFC of the VPC with the medial frontal gyrus (MFG) was significantly more anticorrelated, whereas the RSFC of the PN with the globus pallidus was significantly increased in children with ASD compared with healthy children. Moreover, greater values of RSFC between VPC and MFG were correlated with severity index and repetitive behaviors in children with ASD. No significant RSFC differences were detected in adults with ASD. Together, these data demonstrate the utility of our data-mining program through identifying the aberrant connectivity of thalamo-cortical circuits in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1559 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289

Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems / Pura BALLESTER-NAVARRO in Research in Autism Spectrum Disorders, 81 (March 2021)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 81 (March 2021) . - 101715 Titre : Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems Type de document : texte imprimé Auteurs : Pura BALLESTER-NAVARRO, Auteur ; María José MARTÍNEZ-MADRID, Auteur ; Auxiliadora JAVALOYES-SANCHÍS, Auteur ; César BELDA-CANTÓ, Auteur ; Víctor AGUILAR, Auteur ; María-del-Mar INDA, Auteur ; Amanda L. RICHDALE, Auteur ; Javier MURIEL, Auteur ; Domingo MORALES, Auteur ; Ana M. PEIRÓ, Auteur Article en page(s) : 101715 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Sleep problems  genes  Ambulatory circadian monitoring Index. décimale : PER Périodiques Résumé : Background People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role. Method Our aim was to analyze the influence of genetic variants PER1, ASMT, NPAS2, and MTNR1A by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n = 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring. Results In autistic cases (age 18−41years), PER1 rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype. Conclusions Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles. En ligne : https://doi.org/10.1016/j.rasd.2020.101715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440 [article] Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems [texte imprimé] / Pura BALLESTER-NAVARRO, Auteur ; María José MARTÍNEZ-MADRID, Auteur ; Auxiliadora JAVALOYES-SANCHÍS, Auteur ; César BELDA-CANTÓ, Auteur ; Víctor AGUILAR, Auteur ; María-del-Mar INDA, Auteur ; Amanda L. RICHDALE, Auteur ; Javier MURIEL, Auteur ; Domingo MORALES, Auteur ; Ana M. PEIRÓ, Auteur . - 101715. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 81 (March 2021) . - 101715 Mots-clés : Autism spectrum disorder  Sleep problems  genes  Ambulatory circadian monitoring Index. décimale : PER Périodiques Résumé : Background People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role. Method Our aim was to analyze the influence of genetic variants PER1, ASMT, NPAS2, and MTNR1A by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n = 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring. Results In autistic cases (age 18−41years), PER1 rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype. Conclusions Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles. En ligne : https://doi.org/10.1016/j.rasd.2020.101715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440

Replication of rs10099100 Association with Autism Spectrum Disorder Risk in a Polish?Origin Cohort / Aneta POLEWKO-KLIM ; Barbara PANASIUK ; Beata STASIEWICZ-JAROCKA ; Alireza TAFAZOLI ; Edyta DOBROWOLSKA ; Katarzyna JARZĄBEK ; Renata POSMYK ; Natalia WAWRUSIEWICZ-KURYLONEK in Research in Autism, 123 (May 2025)  

Public ISBD [article]  inResearch in Autism > 123 (May 2025) . - 202542 Titre : Replication of rs10099100 Association with Autism Spectrum Disorder Risk in a Polish?Origin Cohort Type de document : texte imprimé Auteurs : Aneta POLEWKO-KLIM, Auteur ; Barbara PANASIUK, Auteur ; Beata STASIEWICZ-JAROCKA, Auteur ; Alireza TAFAZOLI, Auteur ; Edyta DOBROWOLSKA, Auteur ; Katarzyna JARZĄBEK, Auteur ; Renata POSMYK, Auteur ; Natalia WAWRUSIEWICZ-KURYLONEK, Auteur Article en page(s) : 202542 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Genes  Single nucleotide polymorphism  Sex Index. décimale : PER Périodiques Résumé : Background The genetic basis of autism spectrum disorders (ASD) remains unidentified and unclear. The aim of our study was to conduct replication analyses of previously described ten single nucleotide polymorphisms in a group of candidate susceptibility ASD-genes and loci - SOX7, BEND4, FHIT, ATP2B2, PRKG1, LINC02720, EEF1A2, LOC100422212 and LINC02301 in autistic Polish child population. Methods The study population consisted of a group of 143 unrelated Polish-origin Caucasian patients with autism and 264 healthy subjects. The single nucleotide polymorphisms analysis was performed using the allelic discrimination technique. Boruta and random forest machine learning (ML) algorithms were used for identifying important genetic, and phenotypic markers in ASD patients. Results Our results identify the existence of a strong risk factor of the SOX7 gene polymorphism, namely C risk allele rs10099100 (P = 6.67e-13, odds ratio of 2.92 (OR)) for the development of ASD in the group of studied patients. This variant proved to be a typical male risk factor for developing boys-ASD group as compared to healthy boys (63 % vs 31 %, P = 4. 77e-11, OR of 3.69). For the nine remaining polymorphisms analyzed in our cohort, which have been described in other populations in the available literature, we did not achieve replicability. Conclusions Our results may be useful in screening and early diagnosis of children vulnerable to autism spectrum disorders. It will result in the immediate implementation of vital therapies, reasonable learning facilitations and social training, which brings about a greater chance to enjoy a better quality of life for people on the spectrum. En ligne : https://doi.org/10.1016/j.reia.2025.202542 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] Replication of rs10099100 Association with Autism Spectrum Disorder Risk in a Polish?Origin Cohort [texte imprimé] / Aneta POLEWKO-KLIM, Auteur ; Barbara PANASIUK, Auteur ; Beata STASIEWICZ-JAROCKA, Auteur ; Alireza TAFAZOLI, Auteur ; Edyta DOBROWOLSKA, Auteur ; Katarzyna JARZĄBEK, Auteur ; Renata POSMYK, Auteur ; Natalia WAWRUSIEWICZ-KURYLONEK, Auteur . - 202542. Langues : Anglais (eng) in Research in Autism > 123 (May 2025) . - 202542 Mots-clés : Autism spectrum disorders  Genes  Single nucleotide polymorphism  Sex Index. décimale : PER Périodiques Résumé : Background The genetic basis of autism spectrum disorders (ASD) remains unidentified and unclear. The aim of our study was to conduct replication analyses of previously described ten single nucleotide polymorphisms in a group of candidate susceptibility ASD-genes and loci - SOX7, BEND4, FHIT, ATP2B2, PRKG1, LINC02720, EEF1A2, LOC100422212 and LINC02301 in autistic Polish child population. Methods The study population consisted of a group of 143 unrelated Polish-origin Caucasian patients with autism and 264 healthy subjects. The single nucleotide polymorphisms analysis was performed using the allelic discrimination technique. Boruta and random forest machine learning (ML) algorithms were used for identifying important genetic, and phenotypic markers in ASD patients. Results Our results identify the existence of a strong risk factor of the SOX7 gene polymorphism, namely C risk allele rs10099100 (P = 6.67e-13, odds ratio of 2.92 (OR)) for the development of ASD in the group of studied patients. This variant proved to be a typical male risk factor for developing boys-ASD group as compared to healthy boys (63 % vs 31 %, P = 4. 77e-11, OR of 3.69). For the nine remaining polymorphisms analyzed in our cohort, which have been described in other populations in the available literature, we did not achieve replicability. Conclusions Our results may be useful in screening and early diagnosis of children vulnerable to autism spectrum disorders. It will result in the immediate implementation of vital therapies, reasonable learning facilitations and social training, which brings about a greater chance to enjoy a better quality of life for people on the spectrum. En ligne : https://doi.org/10.1016/j.reia.2025.202542 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

Vers une théorie clinique intégrée des désordres de la constellation autistique / Bruno GEPNER in Développements, 10 (Décembre 2011)

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Suicidal ideation during adolescence: The roles of aggregate genetic liability for suicide attempts and negative life events in the past year / Séverine LANNOY in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)  

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The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis / Pierre L. ROUBERTOUX

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