AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission / Carolyn M. YRIGOLLEN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24 Titre : AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission Type de document : texte imprimé Auteurs : Carolyn M. YRIGOLLEN, Auteur ; Loreto MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Montserrat NAUDO, Auteur ; Jordi GENOVES, Auteur ; Alessandra MURGIA, Auteur ; Roberta POLLI, Auteur ; Linshu ZHOU, Auteur ; Deborah BARBOUTH, Auteur ; Abigail RUPCHOCK, Auteur ; Brenda FINUCANE, Auteur ; Gary J. LATHAM, Auteur ; Andrew HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Flora TASSONE, Auteur Article en page(s) : p.24 Langues : Anglais (eng) Mots-clés : AGG interruptions  Fmr1  full mutation  gray/intermediate allele  premutation  risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission [texte imprimé] / Carolyn M. YRIGOLLEN, Auteur ; Loreto MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Montserrat NAUDO, Auteur ; Jordi GENOVES, Auteur ; Alessandra MURGIA, Auteur ; Roberta POLLI, Auteur ; Linshu ZHOU, Auteur ; Deborah BARBOUTH, Auteur ; Abigail RUPCHOCK, Auteur ; Brenda FINUCANE, Auteur ; Gary J. LATHAM, Auteur ; Andrew HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Flora TASSONE, Auteur . - p.24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24 Mots-clés : AGG interruptions  Fmr1  full mutation  gray/intermediate allele  premutation  risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Exploring interactive effects of genes and environments in etiology of individual differences in reading comprehension / Elena L. GRIGORENKO in Development and Psychopathology, 19-4 (Fall 2007)  

Public ISBD [article]  inDevelopment and Psychopathology > 19-4 (Fall 2007) . - p.1089-1103 Titre : Exploring interactive effects of genes and environments in etiology of individual differences in reading comprehension Type de document : texte imprimé Auteurs : Elena L. GRIGORENKO, Auteur ; Vladislav RUCHKIN, Auteur ; Andrew J. PAKSTIS, Auteur ; Lars ORELAND, Auteur ; Roman A. KOPOSOV, Auteur ; Britt A.F. KLINTEBERG, Auteur ; Gerald J. HAEFFEL, Auteur ; Marya GETCHELL, Auteur ; Colin G. DEYOUNG, Auteur ; Carolyn M. YRIGOLLEN, Auteur Année de publication : 2007 Article en page(s) : p.1089-1103 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : It is established that reading and reading-related processes are heritable; genes thus play an important role in the foundation of individual differences in reading. In this article, we focus on one facet of reading–comprehension. Comprehension is a higher order cognitive skill that requires many other cognitive processes for it to unfold completely and successfully. One such process is executive functioning, which has been associated with genetic variation in the catechol-O-methyltransferase (COMT) gene. Genotypes and haplotypes of four single nucleotide polymorphisms in COMT were investigated in 179 incarcerated adolescent delinquents. Four hierarchical logistic regression models predicting the presence/absence of comprehension difficulties were fitted to the data; genetic variation in COMT and the presence/absence of maternal rejection were investigated as main effects and as effects acting interactively. Three out of four interaction terms were found to be important predictors of individual differences in comprehension. These findings were supported by the results of the haplotype analyses, in which the four investigated polymorphisms were considered simultaneously. En ligne : http://dx.doi.org/10.1017/s0954579407000557 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 [article] Exploring interactive effects of genes and environments in etiology of individual differences in reading comprehension [texte imprimé] / Elena L. GRIGORENKO, Auteur ; Vladislav RUCHKIN, Auteur ; Andrew J. PAKSTIS, Auteur ; Lars ORELAND, Auteur ; Roman A. KOPOSOV, Auteur ; Britt A.F. KLINTEBERG, Auteur ; Gerald J. HAEFFEL, Auteur ; Marya GETCHELL, Auteur ; Colin G. DEYOUNG, Auteur ; Carolyn M. YRIGOLLEN, Auteur . - 2007 . - p.1089-1103. Langues : Anglais (eng) in Development and Psychopathology > 19-4 (Fall 2007) . - p.1089-1103 Index. décimale : PER Périodiques Résumé : It is established that reading and reading-related processes are heritable; genes thus play an important role in the foundation of individual differences in reading. In this article, we focus on one facet of reading–comprehension. Comprehension is a higher order cognitive skill that requires many other cognitive processes for it to unfold completely and successfully. One such process is executive functioning, which has been associated with genetic variation in the catechol-O-methyltransferase (COMT) gene. Genotypes and haplotypes of four single nucleotide polymorphisms in COMT were investigated in 179 incarcerated adolescent delinquents. Four hierarchical logistic regression models predicting the presence/absence of comprehension difficulties were fitted to the data; genetic variation in COMT and the presence/absence of maternal rejection were investigated as main effects and as effects acting interactively. Three out of four interaction terms were found to be important predictors of individual differences in comprehension. These findings were supported by the results of the haplotype analyses, in which the four investigated polymorphisms were considered simultaneously. En ligne : http://dx.doi.org/10.1017/s0954579407000557 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182

Gene variants associated with antisocial behaviour: a latent variable approach / Mary Jane BENTLEY in Journal of Child Psychology and Psychiatry, 54-10 (October 2013)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 54-10 (October 2013) . - p.1074-1085 Titre : Gene variants associated with antisocial behaviour: a latent variable approach Type de document : texte imprimé Auteurs : Mary Jane BENTLEY, Auteur ; Haiqun LIN, Auteur ; Thomas V. FERNANDEZ, Auteur ; Maria LEE, Auteur ; Carolyn M. YRIGOLLEN, Auteur ; Andrew J. PAKSTIS, Auteur ; Liliya KATSOVICH, Auteur ; David L. OLDS, Auteur ; Elena L. GRIGORENKO, Auteur ; James F. LECKMAN, Auteur Article en page(s) : p.1074-1085 Langues : Anglais (eng) Mots-clés : Antisocial behaviour  latent variable analysis  shared variance  co-action of gene variants Index. décimale : PER Périodiques Résumé : Objective The aim of this study was to determine if a latent variable approach might be useful in identifying shared variance across genetic risk alleles that is associated with antisocial behaviour at age 15 years. Methods Using a conventional latent variable approach, we derived an antisocial phenotype in 328 adolescents utilizing data from a 15-year follow-up of a randomized trial of a prenatal and infancy nurse-home visitation programme in Elmira, New York. We then investigated, via a novel latent variable approach, 450 informative genetic polymorphisms in 71 genes previously associated with antisocial behaviour, drug use, affiliative behaviours and stress response in 241 consenting individuals for whom DNA was available. Haplotype and Pathway analyses were also performed. Results Eight single-nucleotide polymorphisms (SNPs) from eight genes contributed to the latent genetic variable that in turn accounted for 16.0% of the variance within the latent antisocial phenotype. The number of risk alleles was linearly related to the latent antisocial variable scores. Haplotypes that included the putative risk alleles for all eight genes were also associated with higher latent antisocial variable scores. In addition, 33 SNPs from 63 of the remaining genes were also significant when added to the final model. Many of these genes interact on a molecular level, forming molecular networks. The results support a role for genes related to dopamine, norepinephrine, serotonin, glutamate, opioid and cholinergic signalling as well as stress response pathways in mediating susceptibility to antisocial behaviour. Conclusions This preliminary study supports use of relevant behavioural indicators and latent variable approaches to study the potential ‘co-action’ of gene variants associated with antisocial behaviour. It also underscores the cumulative relevance of common genetic variants for understanding the aetiology of complex behaviour. If replicated in future studies, this approach may allow the identification of a ‘shared’ variance across genetic risk alleles associated with complex neuropsychiatric dimensional phenotypes using relatively small numbers of well-characterized research participants. En ligne : http://dx.doi.org/10.1111/jcpp.12109 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212 [article] Gene variants associated with antisocial behaviour: a latent variable approach [texte imprimé] / Mary Jane BENTLEY, Auteur ; Haiqun LIN, Auteur ; Thomas V. FERNANDEZ, Auteur ; Maria LEE, Auteur ; Carolyn M. YRIGOLLEN, Auteur ; Andrew J. PAKSTIS, Auteur ; Liliya KATSOVICH, Auteur ; David L. OLDS, Auteur ; Elena L. GRIGORENKO, Auteur ; James F. LECKMAN, Auteur . - p.1074-1085. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 54-10 (October 2013) . - p.1074-1085 Mots-clés : Antisocial behaviour  latent variable analysis  shared variance  co-action of gene variants Index. décimale : PER Périodiques Résumé : Objective The aim of this study was to determine if a latent variable approach might be useful in identifying shared variance across genetic risk alleles that is associated with antisocial behaviour at age 15 years. Methods Using a conventional latent variable approach, we derived an antisocial phenotype in 328 adolescents utilizing data from a 15-year follow-up of a randomized trial of a prenatal and infancy nurse-home visitation programme in Elmira, New York. We then investigated, via a novel latent variable approach, 450 informative genetic polymorphisms in 71 genes previously associated with antisocial behaviour, drug use, affiliative behaviours and stress response in 241 consenting individuals for whom DNA was available. Haplotype and Pathway analyses were also performed. Results Eight single-nucleotide polymorphisms (SNPs) from eight genes contributed to the latent genetic variable that in turn accounted for 16.0% of the variance within the latent antisocial phenotype. The number of risk alleles was linearly related to the latent antisocial variable scores. Haplotypes that included the putative risk alleles for all eight genes were also associated with higher latent antisocial variable scores. In addition, 33 SNPs from 63 of the remaining genes were also significant when added to the final model. Many of these genes interact on a molecular level, forming molecular networks. The results support a role for genes related to dopamine, norepinephrine, serotonin, glutamate, opioid and cholinergic signalling as well as stress response pathways in mediating susceptibility to antisocial behaviour. Conclusions This preliminary study supports use of relevant behavioural indicators and latent variable approaches to study the potential ‘co-action’ of gene variants associated with antisocial behaviour. It also underscores the cumulative relevance of common genetic variants for understanding the aetiology of complex behaviour. If replicated in future studies, this approach may allow the identification of a ‘shared’ variance across genetic risk alleles associated with complex neuropsychiatric dimensional phenotypes using relatively small numbers of well-characterized research participants. En ligne : http://dx.doi.org/10.1111/jcpp.12109 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212

Schooling and variation in the COMT gene: the devil is in the details / Daniel B. CAMPBELL in Journal of Child Psychology and Psychiatry, 54-10 (October 2013)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 54-10 (October 2013) . - p.1056-1065 Titre : Schooling and variation in the COMT gene: the devil is in the details Type de document : texte imprimé Auteurs : Daniel B. CAMPBELL, Auteur ; Johanna BICK, Auteur ; Carolyn M. YRIGOLLEN, Auteur ; Maria LEE, Auteur ; Antony JOSEPH, Auteur ; Joseph T. CHANG, Auteur ; Elena L. GRIGORENKO, Auteur ; LEARNING DISABILITIES PROJECT ZAMBIA,, Auteur Article en page(s) : p.1056-1065 Langues : Anglais (eng) Mots-clés : Schooling  nonverbal intelligence  the COMT gene  haplotype analysis  haplo.glm  interaction effects Index. décimale : PER Périodiques Résumé : Background Schooling is considered one of the major contributors to the development of intelligence within societies and individuals. Genetic variation might modulate the impact of schooling and explain, at least partially, the presence of individual differences in classrooms. Method We studied a sample of 1,502 children (mean age = 11.7 years) from Zambia. Approximately 57% of these children were enrolled in school, and the rest were not. To quantify genetic variation, we investigated a number of common polymorphisms in the catechol-O-methyltransferase (COMT) gene that controls the production of the protein thought to account for 60% of the dopamine degradation in the prefrontal cortex. Results Haplotype analyses generated results ranging from the presence to absence of significant interactions between a number of COMT haplotypes and indicators of schooling (i.e., in- vs. out-of-school and grade completed) in the prediction of nonverbal intelligence, depending on the parameter specification. However, an investigation of the distribution of corresponding p-values suggested that these positive results were false. Conclusions Convincing evidence that the variation in the COMT gene is associated with individual differences in nonverbal intelligence either directly or through interactions with schooling was not found. p-values produced by the method of testing for haplotype effects employed here may be sensitive to parameter settings, invalid under default settings, and should be checked for validity through simulation. En ligne : http://dx.doi.org/10.1111/jcpp.12120 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212 [article] Schooling and variation in the COMT gene: the devil is in the details [texte imprimé] / Daniel B. CAMPBELL, Auteur ; Johanna BICK, Auteur ; Carolyn M. YRIGOLLEN, Auteur ; Maria LEE, Auteur ; Antony JOSEPH, Auteur ; Joseph T. CHANG, Auteur ; Elena L. GRIGORENKO, Auteur ; LEARNING DISABILITIES PROJECT ZAMBIA,, Auteur . - p.1056-1065. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 54-10 (October 2013) . - p.1056-1065 Mots-clés : Schooling  nonverbal intelligence  the COMT gene  haplotype analysis  haplo.glm  interaction effects Index. décimale : PER Périodiques Résumé : Background Schooling is considered one of the major contributors to the development of intelligence within societies and individuals. Genetic variation might modulate the impact of schooling and explain, at least partially, the presence of individual differences in classrooms. Method We studied a sample of 1,502 children (mean age = 11.7 years) from Zambia. Approximately 57% of these children were enrolled in school, and the rest were not. To quantify genetic variation, we investigated a number of common polymorphisms in the catechol-O-methyltransferase (COMT) gene that controls the production of the protein thought to account for 60% of the dopamine degradation in the prefrontal cortex. Results Haplotype analyses generated results ranging from the presence to absence of significant interactions between a number of COMT haplotypes and indicators of schooling (i.e., in- vs. out-of-school and grade completed) in the prediction of nonverbal intelligence, depending on the parameter specification. However, an investigation of the distribution of corresponding p-values suggested that these positive results were false. Conclusions Convincing evidence that the variation in the COMT gene is associated with individual differences in nonverbal intelligence either directly or through interactions with schooling was not found. p-values produced by the method of testing for haplotype effects employed here may be sensitive to parameter settings, invalid under default settings, and should be checked for validity through simulation. En ligne : http://dx.doi.org/10.1111/jcpp.12120 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212

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