77 recherche sur le mot-clé 'Susceptibility-genes'

Brief Report: No Association Between Premorbid Adjustment in Adult-Onset Schizophrenia and Genetic Variation in Dysbindin / Frederike SCHIRMBECK in Journal of Autism and Developmental Disorders, 38-10 (November 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-10 (November 2008) . - p.1977-1981 Titre : Brief Report: No Association Between Premorbid Adjustment in Adult-Onset Schizophrenia and Genetic Variation in Dysbindin Type de document : texte imprimé Auteurs : Frederike SCHIRMBECK, Auteur ; Marcella RIETSCHEL, Auteur ; Sven CICHON, Auteur ; Markus M. NOTHEN, Auteur ; Peter PROPPING, Auteur ; Wolfgang MAIER, Auteur ; Johannes SCHUMACHER, Auteur ; Rami ABOU JAMRA, Auteur ; Per HOFFMANN, Auteur ; Stefan HERMS, Auteur ; Thomas W. MÃœHLEISEN, Auteur ; Katja V. BOESSHENZ, Auteur ; Christine SCHMAEL, Auteur ; Jana STROHMAIER, Auteur ; Alexander GEORGI, Auteur ; Thomas G. SCHULZE, Auteur Année de publication : 2008 Article en page(s) : p.1977-1981 Langues : Anglais (eng) Mots-clés : Premorbid-functioning Susceptibility-genes Haplotypes Phenotype-dissection Complex-genetics Endophenotype Index. décimale : PER Périodiques Résumé : Whereas Dysbindin is considered a schizophrenia vulnerability gene, there is no consistency of findings. Phenotype refinement approaches may help to increase the genetic homogeneity and thus reconcile conflicting results. Premorbid adjustment (PMA) has been suggested to aid the phenotypic dissection. Gornick et al. (J Autism Dev Disord 35:831–838, 2005) reported an association between Dysbindin and PMA in US-Caucasian individuals with childhood-onset psychosis. In a sample of 222 adult-onset schizophrenia inpatients from Germany, we could not detect an association between PMA and 36 SNPs in Dysbindin. Our results suggest that genetic variation in Dysbindin may not contribute to the schizophrenia phenotype with an onset beyond childhood. Further studies including even larger samples and more SNPs may be warranted to clarify the relationship between Dysbindin and PMA. En ligne : http://dx.doi.org/10.1007/s10803-008-0582-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=642 [article] Brief Report: No Association Between Premorbid Adjustment in Adult-Onset Schizophrenia and Genetic Variation in Dysbindin [texte imprimé] / Frederike SCHIRMBECK, Auteur ; Marcella RIETSCHEL, Auteur ; Sven CICHON, Auteur ; Markus M. NOTHEN, Auteur ; Peter PROPPING, Auteur ; Wolfgang MAIER, Auteur ; Johannes SCHUMACHER, Auteur ; Rami ABOU JAMRA, Auteur ; Per HOFFMANN, Auteur ; Stefan HERMS, Auteur ; Thomas W. MÃœHLEISEN, Auteur ; Katja V. BOESSHENZ, Auteur ; Christine SCHMAEL, Auteur ; Jana STROHMAIER, Auteur ; Alexander GEORGI, Auteur ; Thomas G. SCHULZE, Auteur . - 2008 . - p.1977-1981. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-10 (November 2008) . - p.1977-1981 Mots-clés : Premorbid-functioning Susceptibility-genes Haplotypes Phenotype-dissection Complex-genetics Endophenotype Index. décimale : PER Périodiques Résumé : Whereas Dysbindin is considered a schizophrenia vulnerability gene, there is no consistency of findings. Phenotype refinement approaches may help to increase the genetic homogeneity and thus reconcile conflicting results. Premorbid adjustment (PMA) has been suggested to aid the phenotypic dissection. Gornick et al. (J Autism Dev Disord 35:831–838, 2005) reported an association between Dysbindin and PMA in US-Caucasian individuals with childhood-onset psychosis. In a sample of 222 adult-onset schizophrenia inpatients from Germany, we could not detect an association between PMA and 36 SNPs in Dysbindin. Our results suggest that genetic variation in Dysbindin may not contribute to the schizophrenia phenotype with an onset beyond childhood. Further studies including even larger samples and more SNPs may be warranted to clarify the relationship between Dysbindin and PMA. En ligne : http://dx.doi.org/10.1007/s10803-008-0582-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=642

Epilogue: Perspectives and Caveats / Pierre L. ROUBERTOUX

Public ISBD in Organism models of autism spectrum disorders / Pierre L. ROUBERTOUX Titre : Epilogue: Perspectives and Caveats Type de document : texte imprimé Auteurs : Pierre L. ROUBERTOUX, Auteur Année de publication : 2015 Importance : p.471-477 Langues : Anglais (eng) Mots-clés : Induced pluripotent stem cells (iPSC)  Bacteria  Optogenetics  Susceptibility genes  Treatments Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 in Organism models of autism spectrum disorders / Pierre L. ROUBERTOUX Epilogue: Perspectives and Caveats [texte imprimé] / Pierre L. ROUBERTOUX, Auteur . - 2015 . - p.471-477. Langues : Anglais (eng) Mots-clés : Induced pluripotent stem cells (iPSC)  Bacteria  Optogenetics  Susceptibility genes  Treatments Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265

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Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways / Valerie W. HU in Autism, 25-4 (May 2021)  

Public ISBD [article]  inAutism > 25-4 (May 2021) . - p.887-910 Titre : Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways Type de document : texte imprimé Auteurs : Valerie W. HU, Auteur ; Yi HONG, Auteur ; Minyi XU, Auteur ; Henry T. SHU, Auteur Article en page(s) : p.887-910 Langues : Anglais (eng) Mots-clés : DNA methylation  autism  autism spectrum disorder phenotype  differentially methylated genes  lymphoblastoid cells  promoter arrays  sex differences  signaling and metabolic pathways Index. décimale : PER Périodiques Résumé : This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders. En ligne : http://dx.doi.org/10.1177/1362361320971085 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444 [article] Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways [texte imprimé] / Valerie W. HU, Auteur ; Yi HONG, Auteur ; Minyi XU, Auteur ; Henry T. SHU, Auteur . - p.887-910. Langues : Anglais (eng) in Autism > 25-4 (May 2021) . - p.887-910 Mots-clés : DNA methylation  autism  autism spectrum disorder phenotype  differentially methylated genes  lymphoblastoid cells  promoter arrays  sex differences  signaling and metabolic pathways Index. décimale : PER Périodiques Résumé : This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders. En ligne : http://dx.doi.org/10.1177/1362361320971085 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444

An experimental test of differential susceptibility to parenting among emotionally-dysregulated children in a randomized controlled trial for oppositional behavior / Stephen SCOTT in Journal of Child Psychology and Psychiatry, 53-11 (November 2012)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 53-11 (November 2012) . - p.1184-1193 Titre : An experimental test of differential susceptibility to parenting among emotionally-dysregulated children in a randomized controlled trial for oppositional behavior Type de document : texte imprimé Auteurs : Stephen SCOTT, Auteur ; Thomas G. O'CONNOR, Auteur Année de publication : 2012 Article en page(s) : p.1184-1193 Langues : Anglais (eng) Mots-clés : Emotional dysfunction  parenting  differential susceptibility  RCT Index. décimale : PER Périodiques Résumé : Background:  The concept of differential susceptibility has challenged the potential meaning of personal traits such as poor ability to regulate emotions. Under the traditional model of diathesis/stress, personal characteristics such as liability to angry outbursts are seen as essentially disadvantageous, emerging under duress in a way that is maladaptive. In contrast, with differential susceptibility, there is the same poorer functioning under adverse conditions but, under favorable conditions, individuals with the trait function better than those without it. To date, there have been limited studies on response under positive environments. We used the experimental power of an intervention trial to test the differential susceptibility hypothesis that children with emotional dysregulation would show greater response to an experimentally induced improvement in their parenting environment. Methods:  Data were from the SPOKES trial (ISRCTN 77566446), a randomized controlled trial of 112 school children who were 5–6-years old, screened for elevated levels of oppositionality, randomized to parenting groups or control; 109 (97%) were followed-up a year later. Using DSM-IV oppositional-defiant symptoms, children were divided into an Emotionally-Dysregulated type (ED, n = 68) and a Headstrong type (n = 44). The parenting intervention was the Incredible Years program supplemented by positive strategies to use when reading with children. Assessment of conduct problems and parenting was by semistructured interviews. Results:  At follow-up, parents of Emotionally-Dysregulated and Headstrong children allocated to the intervention showed significant improvements in their parenting strategies to an equal extent compared to parents in the control group. However, the Emotionally-Dysregulated children showed a significantly greater decrease in conduct problems between intervention and control groups (treatment effect-size 0.84 standard deviations) than the Headstrong (es 0.20 SD), p = 0.04. Conclusions:  Using the power of a controlled experiment, this study showed that children who exhibited Emotionally-Dysregulated behavior pretreatment were more responsive to improvements in parental care that were experimentally induced. The findings extend prior work on differential sensitivity in suggesting that children exhibiting irascibility and emotionality may show greater susceptibility to the caregiving environment, and may identify a subset of children who respond better to existing treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02586.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 [article] An experimental test of differential susceptibility to parenting among emotionally-dysregulated children in a randomized controlled trial for oppositional behavior [texte imprimé] / Stephen SCOTT, Auteur ; Thomas G. O'CONNOR, Auteur . - 2012 . - p.1184-1193. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-11 (November 2012) . - p.1184-1193 Mots-clés : Emotional dysfunction  parenting  differential susceptibility  RCT Index. décimale : PER Périodiques Résumé : Background:  The concept of differential susceptibility has challenged the potential meaning of personal traits such as poor ability to regulate emotions. Under the traditional model of diathesis/stress, personal characteristics such as liability to angry outbursts are seen as essentially disadvantageous, emerging under duress in a way that is maladaptive. In contrast, with differential susceptibility, there is the same poorer functioning under adverse conditions but, under favorable conditions, individuals with the trait function better than those without it. To date, there have been limited studies on response under positive environments. We used the experimental power of an intervention trial to test the differential susceptibility hypothesis that children with emotional dysregulation would show greater response to an experimentally induced improvement in their parenting environment. Methods:  Data were from the SPOKES trial (ISRCTN 77566446), a randomized controlled trial of 112 school children who were 5–6-years old, screened for elevated levels of oppositionality, randomized to parenting groups or control; 109 (97%) were followed-up a year later. Using DSM-IV oppositional-defiant symptoms, children were divided into an Emotionally-Dysregulated type (ED, n = 68) and a Headstrong type (n = 44). The parenting intervention was the Incredible Years program supplemented by positive strategies to use when reading with children. Assessment of conduct problems and parenting was by semistructured interviews. Results:  At follow-up, parents of Emotionally-Dysregulated and Headstrong children allocated to the intervention showed significant improvements in their parenting strategies to an equal extent compared to parents in the control group. However, the Emotionally-Dysregulated children showed a significantly greater decrease in conduct problems between intervention and control groups (treatment effect-size 0.84 standard deviations) than the Headstrong (es 0.20 SD), p = 0.04. Conclusions:  Using the power of a controlled experiment, this study showed that children who exhibited Emotionally-Dysregulated behavior pretreatment were more responsive to improvements in parental care that were experimentally induced. The findings extend prior work on differential sensitivity in suggesting that children exhibiting irascibility and emotionality may show greater susceptibility to the caregiving environment, and may identify a subset of children who respond better to existing treatments. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02586.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182

Are there sex differences in interactive associations of environmental exposure to Lead (Pb), Mercury (Hg), and Manganese (Mn) with GST Genes (GSTP1, GSTT1, and GSTM1) in relation to ASD in Jamaican children? / Hiba T. ZWIYA in Research in Autism Spectrum Disorders, 105 (July 2023)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 105 (July 2023) . - 102162 Titre : Are there sex differences in interactive associations of environmental exposure to Lead (Pb), Mercury (Hg), and Manganese (Mn) with GST Genes (GSTP1, GSTT1, and GSTM1) in relation to ASD in Jamaican children? Type de document : texte imprimé Auteurs : Hiba T. ZWIYA, Auteur ; Maureen SAMMS-VAUGHAN, Auteur ; Jan BRESSLER, Auteur ; MinJae LEE, Auteur ; Courtney BYRD-WILLIAMS, Auteur ; Manouchehr HESSABI, Auteur ; Megan L. GROVE, Auteur ; Sydonnie SHAKESPEARE-PELLINGTON, Auteur ; Katherine A. LOVELAND, Auteur ; Mohammad H. RAHBAR, Auteur Article en page(s) : 102162 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder (ASD)  Sex Differences  Interaction  Glutathione S-transferase (GST) genes  Heavy metals (Lead, Mercury, Manganese) Index. décimale : PER Périodiques Résumé : Background Male preponderance is well-established in children with autism spectrum disorder (ASD). Glutathione S-transferase (GST) genes play a crucial role in suppressing oxidative stress triggered by environmental stressors. Objective To determine whether the association between metals and ASD differs by sex and by GST genes. Methods Using data from 344 pairs of sex-and age-matched cases and controls, we assessed the association of each metal with ASD or ASD severity, by applying conditional logistic regression (CLR) or general linear models (GLM). Sex was assessed as an effect modifier in separate GST genetic models. Results For Pb exposure, using a recessive model for the GSTP1 Ile105Val polymorphism, CLR revealed significant overall interaction between sex and GSTP1 (P = 0.04). However, sex-specific matched odds ratios revealed marginally lower odds of the Val/Val genotype among ASD cases than controls in females (MORfemales= 0.23 (95 % CI): 0.05-1.11, P = 0.06), but not among males (MORmales= 1.18 (95 % CI): 0.66-2.16, P = 0.57) in the adjusted model. GLMs for Hg exposure detected significant overall interactions in GSTP1 co-dominant and recessive genetic models. For example, the mean difference in ASD severity among children with Val/Val genotype compared to those with Ile/Ile or Ile/Val were MORfemales=  0.26 and MORmales= 1.30, respectively, in the adjusted model. Conclusion The association of Pb and Hg with ASD significantly differed by sex under the GSTP1 co-dominant and recessive genetic models. Such findings reflect potential sex differences in metal detoxification mechanisms. Replication is warranted due to the limited sample size of female participants. En ligne : https://doi.org/10.1016/j.rasd.2023.102162 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Are there sex differences in interactive associations of environmental exposure to Lead (Pb), Mercury (Hg), and Manganese (Mn) with GST Genes (GSTP1, GSTT1, and GSTM1) in relation to ASD in Jamaican children? [texte imprimé] / Hiba T. ZWIYA, Auteur ; Maureen SAMMS-VAUGHAN, Auteur ; Jan BRESSLER, Auteur ; MinJae LEE, Auteur ; Courtney BYRD-WILLIAMS, Auteur ; Manouchehr HESSABI, Auteur ; Megan L. GROVE, Auteur ; Sydonnie SHAKESPEARE-PELLINGTON, Auteur ; Katherine A. LOVELAND, Auteur ; Mohammad H. RAHBAR, Auteur . - 102162. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 105 (July 2023) . - 102162 Mots-clés : Autism Spectrum Disorder (ASD)  Sex Differences  Interaction  Glutathione S-transferase (GST) genes  Heavy metals (Lead, Mercury, Manganese) Index. décimale : PER Périodiques Résumé : Background Male preponderance is well-established in children with autism spectrum disorder (ASD). Glutathione S-transferase (GST) genes play a crucial role in suppressing oxidative stress triggered by environmental stressors. Objective To determine whether the association between metals and ASD differs by sex and by GST genes. Methods Using data from 344 pairs of sex-and age-matched cases and controls, we assessed the association of each metal with ASD or ASD severity, by applying conditional logistic regression (CLR) or general linear models (GLM). Sex was assessed as an effect modifier in separate GST genetic models. Results For Pb exposure, using a recessive model for the GSTP1 Ile105Val polymorphism, CLR revealed significant overall interaction between sex and GSTP1 (P = 0.04). However, sex-specific matched odds ratios revealed marginally lower odds of the Val/Val genotype among ASD cases than controls in females (MORfemales= 0.23 (95 % CI): 0.05-1.11, P = 0.06), but not among males (MORmales= 1.18 (95 % CI): 0.66-2.16, P = 0.57) in the adjusted model. GLMs for Hg exposure detected significant overall interactions in GSTP1 co-dominant and recessive genetic models. For example, the mean difference in ASD severity among children with Val/Val genotype compared to those with Ile/Ile or Ile/Val were MORfemales=  0.26 and MORmales= 1.30, respectively, in the adjusted model. Conclusion The association of Pb and Hg with ASD significantly differed by sex under the GSTP1 co-dominant and recessive genetic models. Such findings reflect potential sex differences in metal detoxification mechanisms. Replication is warranted due to the limited sample size of female participants. En ligne : https://doi.org/10.1016/j.rasd.2023.102162 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder / Yan LI in Journal of Autism and Developmental Disorders, 50-10 (October 2020)  

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Association of polychlorinated biphenyls and organochlorine pesticides with autism spectrum disorder in Jamaican children / MacKinsey A. BACH in Research in Autism Spectrum Disorders, 76 (August 2020)  

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Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood / Amy NIEGO in Autism, 25-2 (February 2021)  

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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)  

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Autisme, la piste génétique se confirme / Thomas BOURGERON in Enfance, 2009-1 (janvier-mars 2009)  

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