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A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis / Anthony J. GRISWOLD in Autism Research, 4-3 (June 2011)
[article]
Titre : A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis Type de document : Texte imprimé et/ou numérique Auteurs : Anthony J. GRISWOLD, Auteur ; Deqiong MA, Auteur ; Stephanie J. SACHAROW, Auteur ; Joycelyn L. ROBINSON, Auteur ; James M. JAWORSKI, Auteur ; Harry H. WRIGHT, Auteur ; Ruth K. ABRAMSON, Auteur ; Helle LYBAEK, Auteur ; Nina OYEN, Auteur ; Michael L. CUCCARO, Auteur ; John R. GILBERT, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur Année de publication : 2011 Article en page(s) : p.221-227 Langues : Anglais (eng) Mots-clés : genetics copy number variation molecular genetics Index. décimale : PER Périodiques Résumé : Autism is a neuro-developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive behaviors. Cytogenetic studies have implicated large chromosomal aberrations in the etiology of approximately 5–7% of autism patients, and the recent advent of array-based techniques allows the exploration of submicroscopic copy number variations (CNVs). We genotyped a 14-year-old boy with autism, spherocytosis and other physical dysmorphia, his parents, and two non-autistic siblings with the Illumina Human 1M Beadchip as part of a study of the molecular genetics of autism and determined copy number variants using the PennCNV algorithm. We identified and validated a de novo 1.5 Mb microdeletion of 14q23.2-23.3 in our autistic patient. This region contains 15 genes, including spectrin beta (SPTB), encoding a cytoskeletal protein previously associated with spherocytosis, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a folate metabolizing enzyme previously associated with bipoloar disorder and schizophrenia, pleckstrin homology domain-containing family G member 3 (PLEKHG3), a guanide nucleotide exchange enriched in the brain, and churchill domain containing protein 1 (CHURC1), homologs of which regulate neuronal development in model organisms. While a similar deletion has previously been reported in a family with spherocytosis, severe learning disabilities, and mild mental retardation, this is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk. En ligne : http://dx.doi.org/10.1002/aur.186 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127
in Autism Research > 4-3 (June 2011) . - p.221-227[article] A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis [Texte imprimé et/ou numérique] / Anthony J. GRISWOLD, Auteur ; Deqiong MA, Auteur ; Stephanie J. SACHAROW, Auteur ; Joycelyn L. ROBINSON, Auteur ; James M. JAWORSKI, Auteur ; Harry H. WRIGHT, Auteur ; Ruth K. ABRAMSON, Auteur ; Helle LYBAEK, Auteur ; Nina OYEN, Auteur ; Michael L. CUCCARO, Auteur ; John R. GILBERT, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur . - 2011 . - p.221-227.
Langues : Anglais (eng)
in Autism Research > 4-3 (June 2011) . - p.221-227
Mots-clés : genetics copy number variation molecular genetics Index. décimale : PER Périodiques Résumé : Autism is a neuro-developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive behaviors. Cytogenetic studies have implicated large chromosomal aberrations in the etiology of approximately 5–7% of autism patients, and the recent advent of array-based techniques allows the exploration of submicroscopic copy number variations (CNVs). We genotyped a 14-year-old boy with autism, spherocytosis and other physical dysmorphia, his parents, and two non-autistic siblings with the Illumina Human 1M Beadchip as part of a study of the molecular genetics of autism and determined copy number variants using the PennCNV algorithm. We identified and validated a de novo 1.5 Mb microdeletion of 14q23.2-23.3 in our autistic patient. This region contains 15 genes, including spectrin beta (SPTB), encoding a cytoskeletal protein previously associated with spherocytosis, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a folate metabolizing enzyme previously associated with bipoloar disorder and schizophrenia, pleckstrin homology domain-containing family G member 3 (PLEKHG3), a guanide nucleotide exchange enriched in the brain, and churchill domain containing protein 1 (CHURC1), homologs of which regulate neuronal development in model organisms. While a similar deletion has previously been reported in a family with spherocytosis, severe learning disabilities, and mild mental retardation, this is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk. En ligne : http://dx.doi.org/10.1002/aur.186 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127 Male Gender Bias in Autism and Pediatric Autoimmunity / Kevin G. BECKER in Autism Research, 5-2 (April 2012)
[article]
Titre : Male Gender Bias in Autism and Pediatric Autoimmunity Type de document : Texte imprimé et/ou numérique Auteurs : Kevin G. BECKER, Auteur Année de publication : 2012 Article en page(s) : p.77-83 Langues : Anglais (eng) Mots-clés : autoimmune immunology molecular genetics pediatrics developmental neurobiology Index. décimale : PER Périodiques Résumé : Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. These early molecular events, at a time of rapid development, are intimately linked to concurrent development in the brain and immune system. It is suggested here that these early regulatory events may overlap between autism and autoimmunity in determining male sex bias and may provide evidence of an etiological link among autism, immune dysregulation, and autoimmune disease. En ligne : http://dx.doi.org/10.1002/aur.1227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155
in Autism Research > 5-2 (April 2012) . - p.77-83[article] Male Gender Bias in Autism and Pediatric Autoimmunity [Texte imprimé et/ou numérique] / Kevin G. BECKER, Auteur . - 2012 . - p.77-83.
Langues : Anglais (eng)
in Autism Research > 5-2 (April 2012) . - p.77-83
Mots-clés : autoimmune immunology molecular genetics pediatrics developmental neurobiology Index. décimale : PER Périodiques Résumé : Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. These early molecular events, at a time of rapid development, are intimately linked to concurrent development in the brain and immune system. It is suggested here that these early regulatory events may overlap between autism and autoimmunity in determining male sex bias and may provide evidence of an etiological link among autism, immune dysregulation, and autoimmune disease. En ligne : http://dx.doi.org/10.1002/aur.1227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 Assessing phenotypic and polygenic models of ADHD to identify mechanisms of risk for longitudinal trajectories of externalizing behaviors / J. J. LI in Journal of Child Psychology and Psychiatry, 60-11 (November 2019)
[article]
Titre : Assessing phenotypic and polygenic models of ADHD to identify mechanisms of risk for longitudinal trajectories of externalizing behaviors Type de document : Texte imprimé et/ou numérique Auteurs : J. J. LI, Auteur Article en page(s) : p.1191-1199 Langues : Anglais (eng) Mots-clés : Adhd antisocial behavior longitudinal studies mediation molecular genetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with ADHD frequently engage in higher rates of externalizing behaviors in adulthood relative to children without. However, externalizing behaviors vary across development. Little is known about how this risk unfolds across development. Phenotypic and polygenic models of childhood ADHD were used to predict individual differences in adult externalizing trajectories. Supportive parenting, school connectedness, and peer closeness were then examined as causal mechanisms. METHODS: Data were from the National Longitudinal Study of Adolescent to Adult Health (N = 7,674). Externalizing behavior was measured using data from age 18 to 32 and modeled using latent class growth analysis. Child ADHD was measured using retrospective self-report (phenotypic model) and genome-wide polygenic risk scores (polygenic model). Multiple mediation models examined the direct and indirect effects of the phenotypic and polygenic models (separately) on externalizing trajectories through the effects of adolescent supportive parenting, school connectedness, and peer closeness. RESULTS: Phenotypic and polygenic models of ADHD were associated with being in the High Decreasing (3.2% of sample) and Moderate (16.1%) adult externalizing trajectories, but not the severe Low Increasing trajectory (2.6%), relative to the Normal trajectory (78.2%). Associations between both models of ADHD on the High Decreasing and Moderate trajectories were partially mediated through the effects of school connectedness, but not supportive parenting or peer closeness. CONCLUSIONS: Findings shed light on how childhood ADHD affects downstream psychosocial processes that then predict specific externalizing outcomes in adulthood. They also reinforce the importance of fostering a strong school environment for adolescents with (and without) ADHD, as this context plays a critical role in shaping the development of externalizing behaviors in adulthood. En ligne : http://dx.doi.org/10.1111/jcpp.13071 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408
in Journal of Child Psychology and Psychiatry > 60-11 (November 2019) . - p.1191-1199[article] Assessing phenotypic and polygenic models of ADHD to identify mechanisms of risk for longitudinal trajectories of externalizing behaviors [Texte imprimé et/ou numérique] / J. J. LI, Auteur . - p.1191-1199.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 60-11 (November 2019) . - p.1191-1199
Mots-clés : Adhd antisocial behavior longitudinal studies mediation molecular genetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with ADHD frequently engage in higher rates of externalizing behaviors in adulthood relative to children without. However, externalizing behaviors vary across development. Little is known about how this risk unfolds across development. Phenotypic and polygenic models of childhood ADHD were used to predict individual differences in adult externalizing trajectories. Supportive parenting, school connectedness, and peer closeness were then examined as causal mechanisms. METHODS: Data were from the National Longitudinal Study of Adolescent to Adult Health (N = 7,674). Externalizing behavior was measured using data from age 18 to 32 and modeled using latent class growth analysis. Child ADHD was measured using retrospective self-report (phenotypic model) and genome-wide polygenic risk scores (polygenic model). Multiple mediation models examined the direct and indirect effects of the phenotypic and polygenic models (separately) on externalizing trajectories through the effects of adolescent supportive parenting, school connectedness, and peer closeness. RESULTS: Phenotypic and polygenic models of ADHD were associated with being in the High Decreasing (3.2% of sample) and Moderate (16.1%) adult externalizing trajectories, but not the severe Low Increasing trajectory (2.6%), relative to the Normal trajectory (78.2%). Associations between both models of ADHD on the High Decreasing and Moderate trajectories were partially mediated through the effects of school connectedness, but not supportive parenting or peer closeness. CONCLUSIONS: Findings shed light on how childhood ADHD affects downstream psychosocial processes that then predict specific externalizing outcomes in adulthood. They also reinforce the importance of fostering a strong school environment for adolescents with (and without) ADHD, as this context plays a critical role in shaping the development of externalizing behaviors in adulthood. En ligne : http://dx.doi.org/10.1111/jcpp.13071 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 Gene-environment correlations in parental emotional warmth and intolerance: genome-wide analysis over two generations of the Young Finns Study / H. DOBEWALL in Journal of Child Psychology and Psychiatry, 60-3 (March 2019)
[article]
Titre : Gene-environment correlations in parental emotional warmth and intolerance: genome-wide analysis over two generations of the Young Finns Study Type de document : Texte imprimé et/ou numérique Auteurs : H. DOBEWALL, Auteur ; K. SAVELIEVA, Auteur ; I. SEPPALA, Auteur ; A. KNAFO-NOAM, Auteur ; C. HAKULINEN, Auteur ; M. ELOVAINIO, Auteur ; L. KELTIKANGAS-JARVINEN, Auteur ; L. PULKKI-RABACK, Auteur ; O. T. RAITAKARI, Auteur ; T. LEHTIMAKI, Auteur ; M. HINTSANEN, Auteur Article en page(s) : p.277-285 Langues : Anglais (eng) Mots-clés : Gcta-greml Parenting child development children's' genome-wide genotype variation evocative gene-environment correlation molecular genetics temperament Index. décimale : PER Périodiques Résumé : BACKGROUND: Genomic analysis of the child might offer new potential to illuminate human parenting. We examined whether offspring (G2) genome-wide genotype variation (SNPs) is associated with their mother's (G1) emotional warmth and intolerance, indicating a gene-environment correlation. If this association is stronger than between G2's genes and their emotional warmth and intolerance toward their own children, then this would indicate the presence of an evocative gene-environment correlation. To further understand how G1 mother's parenting has been evoked by genetically influenced characteristics of the child (G2), we examined whether child (G2) temperament partially accounted for the association between offspring genes and parental responses. METHODS: Participants were from the Young Finns Study. G1 mothers (N = 2,349; mean age 39 years) self-reported the emotional warmth and intolerance toward G2 in 1980 when the participants were from 3 to 18 years old. G2 participants answered the same parenting scales in 2007/2012 (N = 1,378; mean age = 38 years in 2007; 59% female) when their children were on average 11 years old. Offspring temperament traits were self-reported in 1992 (G2 age range 15-30 years). Estimation of the phenotypic variance explained by the SNPs of G2 was done by genome-wide complex trait analysis with restricted maximum likelihood (GCTA-GREML). RESULTS: Results showed that the SNPs of a child (G2) explained 22.6% of the phenotypic variance of maternal intolerance (G1; p-value = .039). G2 temperament trait negative emotionality explained only 2.4% points of this association. G2 genes did not explain G1 emotional warmth or G2's own emotional warmth and intolerance. However, further analyses of a combined measure of both G1 parenting scales found genetic effects. Parent or child gender did not moderate the observed associations. CONCLUSIONS: Presented genome-wide evidence is pointing to the important role a child plays in affecting and shaping his/her family environment, though the underlying mechanisms remain unclear. En ligne : https://dx.doi.org/10.1111/jcpp.12995 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=385
in Journal of Child Psychology and Psychiatry > 60-3 (March 2019) . - p.277-285[article] Gene-environment correlations in parental emotional warmth and intolerance: genome-wide analysis over two generations of the Young Finns Study [Texte imprimé et/ou numérique] / H. DOBEWALL, Auteur ; K. SAVELIEVA, Auteur ; I. SEPPALA, Auteur ; A. KNAFO-NOAM, Auteur ; C. HAKULINEN, Auteur ; M. ELOVAINIO, Auteur ; L. KELTIKANGAS-JARVINEN, Auteur ; L. PULKKI-RABACK, Auteur ; O. T. RAITAKARI, Auteur ; T. LEHTIMAKI, Auteur ; M. HINTSANEN, Auteur . - p.277-285.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 60-3 (March 2019) . - p.277-285
Mots-clés : Gcta-greml Parenting child development children's' genome-wide genotype variation evocative gene-environment correlation molecular genetics temperament Index. décimale : PER Périodiques Résumé : BACKGROUND: Genomic analysis of the child might offer new potential to illuminate human parenting. We examined whether offspring (G2) genome-wide genotype variation (SNPs) is associated with their mother's (G1) emotional warmth and intolerance, indicating a gene-environment correlation. If this association is stronger than between G2's genes and their emotional warmth and intolerance toward their own children, then this would indicate the presence of an evocative gene-environment correlation. To further understand how G1 mother's parenting has been evoked by genetically influenced characteristics of the child (G2), we examined whether child (G2) temperament partially accounted for the association between offspring genes and parental responses. METHODS: Participants were from the Young Finns Study. G1 mothers (N = 2,349; mean age 39 years) self-reported the emotional warmth and intolerance toward G2 in 1980 when the participants were from 3 to 18 years old. G2 participants answered the same parenting scales in 2007/2012 (N = 1,378; mean age = 38 years in 2007; 59% female) when their children were on average 11 years old. Offspring temperament traits were self-reported in 1992 (G2 age range 15-30 years). Estimation of the phenotypic variance explained by the SNPs of G2 was done by genome-wide complex trait analysis with restricted maximum likelihood (GCTA-GREML). RESULTS: Results showed that the SNPs of a child (G2) explained 22.6% of the phenotypic variance of maternal intolerance (G1; p-value = .039). G2 temperament trait negative emotionality explained only 2.4% points of this association. G2 genes did not explain G1 emotional warmth or G2's own emotional warmth and intolerance. However, further analyses of a combined measure of both G1 parenting scales found genetic effects. Parent or child gender did not moderate the observed associations. CONCLUSIONS: Presented genome-wide evidence is pointing to the important role a child plays in affecting and shaping his/her family environment, though the underlying mechanisms remain unclear. En ligne : https://dx.doi.org/10.1111/jcpp.12995 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=385 Gene-environment interplay in externalizing behavior from childhood through adulthood / Tina KRETSCHMER in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)
[article]
Titre : Gene-environment interplay in externalizing behavior from childhood through adulthood Type de document : Texte imprimé et/ou numérique Auteurs : Tina KRETSCHMER, Auteur ; Charlotte VRIJEN, Auteur ; Ilja Maria NOLTE, Auteur ; Jasmin WERTZ, Auteur ; Catharina A. HARTMAN, Auteur Année de publication : 2022 Article en page(s) : p.1206-1213 Langues : Anglais (eng) Mots-clés : Adolescent Adult Antisocial Personality Disorder/genetics Child Child Behavior Genetic Predisposition to Disease Humans Longitudinal Studies Multifactorial Inheritance Prospective Studies Externalising disorder family functioning gene-environment interaction (GxE) molecular genetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic and environmental influences on externalizing problems are often studied separately. Here, we extended prior work by investigating the implications of gene-environment interplay in childhood for early adult externalizing behavior. Genetic nurture would be indicated if parents' genetic predisposition for externalizing behavior operates through the family environment in predicting offspring early adult externalizing behavior. Evocative gene-environment correlation would be indicated if offspring genetic predisposition for externalizing behavior operates through child externalizing behavior in affecting the family environment and later early adult externalizing behavior. METHOD: Longitudinal data from seven waves of the TRacking Adolescents' Individual Lives Survey, a prospective cohort study of Dutch adolescents followed from age 11 to age 29 (n at baseline=2,734) were used. Child externalizing behavior was assessed using self and parent reports. Family dysfunction was assessed by parents. Early adult externalizing behavior was assessed using self-reports. Genome-wide polygenic scores for externalizing problems were constructed for mothers, fathers, and offspring. RESULTS: Offspring polygenic score and child behavior each predicted early adult externalizing problems, as did family dysfunction to a small extent. Parents' polygenic scores were not associated with offspring's early adult externalizing behavior. Indirect effect tests indicated that offspring polygenic score was associated with greater family dysfunction via child externalizing behavior (evocative gene-environment correlation) but the effect was just significant and the effect size was very small. Parents' polygenic scores did not predict family dysfunction, thus the data do not provide support for genetic nurture. CONCLUSIONS: A very small evocative gene-environment correlation was detected but effect sizes were much more pronounced for stability in externalizing behavior from childhood through early adulthood, which highlights the necessity to intervene early to prevent later problems. En ligne : http://dx.doi.org/10.1111/jcpp.13652 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Journal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1206-1213[article] Gene-environment interplay in externalizing behavior from childhood through adulthood [Texte imprimé et/ou numérique] / Tina KRETSCHMER, Auteur ; Charlotte VRIJEN, Auteur ; Ilja Maria NOLTE, Auteur ; Jasmin WERTZ, Auteur ; Catharina A. HARTMAN, Auteur . - 2022 . - p.1206-1213.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1206-1213
Mots-clés : Adolescent Adult Antisocial Personality Disorder/genetics Child Child Behavior Genetic Predisposition to Disease Humans Longitudinal Studies Multifactorial Inheritance Prospective Studies Externalising disorder family functioning gene-environment interaction (GxE) molecular genetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic and environmental influences on externalizing problems are often studied separately. Here, we extended prior work by investigating the implications of gene-environment interplay in childhood for early adult externalizing behavior. Genetic nurture would be indicated if parents' genetic predisposition for externalizing behavior operates through the family environment in predicting offspring early adult externalizing behavior. Evocative gene-environment correlation would be indicated if offspring genetic predisposition for externalizing behavior operates through child externalizing behavior in affecting the family environment and later early adult externalizing behavior. METHOD: Longitudinal data from seven waves of the TRacking Adolescents' Individual Lives Survey, a prospective cohort study of Dutch adolescents followed from age 11 to age 29 (n at baseline=2,734) were used. Child externalizing behavior was assessed using self and parent reports. Family dysfunction was assessed by parents. Early adult externalizing behavior was assessed using self-reports. Genome-wide polygenic scores for externalizing problems were constructed for mothers, fathers, and offspring. RESULTS: Offspring polygenic score and child behavior each predicted early adult externalizing problems, as did family dysfunction to a small extent. Parents' polygenic scores were not associated with offspring's early adult externalizing behavior. Indirect effect tests indicated that offspring polygenic score was associated with greater family dysfunction via child externalizing behavior (evocative gene-environment correlation) but the effect was just significant and the effect size was very small. Parents' polygenic scores did not predict family dysfunction, thus the data do not provide support for genetic nurture. CONCLUSIONS: A very small evocative gene-environment correlation was detected but effect sizes were much more pronounced for stability in externalizing behavior from childhood through early adulthood, which highlights the necessity to intervene early to prevent later problems. En ligne : http://dx.doi.org/10.1111/jcpp.13652 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 Meta-Analysis of Gene Expression in Autism Spectrum Disorder / Carolyn CH'NG in Autism Research, 8-5 (October 2015)
PermalinkNeuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model / Jacob ELLEGOOD in Autism Research, 8-5 (October 2015)
PermalinkWhat is the biological reality of gene–environment interaction estimates? An assessment of bias in developmental models / Sarah R. MOORE in Journal of Child Psychology and Psychiatry, 57-11 (November 2016)
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