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Common genetic variants, acting additively, are a major source of risk for autism / Lambertus KLEI in Molecular Autism, (October 2012)
[article]
Titre : Common genetic variants, acting additively, are a major source of risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur Année de publication : 2012 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Narrow-sense heritability Multiplex Simplex Quantitative genetics Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals.
Methods
By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status.
Results
By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating.
Conclusions
Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202
in Molecular Autism > (October 2012) . - 13 p.[article] Common genetic variants, acting additively, are a major source of risk for autism [Texte imprimé et/ou numérique] / Lambertus KLEI, Auteur ; Stephan J. SANDERS, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. J. WILLSEY, Auteur ; Daniel MORENO DE LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel H. GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Christa L. MARTIN, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; Nadine M. MELHEM, Auteur ; Pauline CHASTE, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Edwin H. Jr COOK, Auteur ; Kathryn ROEDER, Auteur ; Bernie DEVLIN, Auteur . - 2012 . - 13 p.
Langues : Anglais (eng)
in Molecular Autism > (October 2012) . - 13 p.
Mots-clés : Narrow-sense heritability Multiplex Simplex Quantitative genetics Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals.
Methods
By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status.
Results
By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating.
Conclusions
Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.En ligne : http://dx.doi.org/10.1186/2040-2392-3-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 Who is afraid of math? Two sources of genetic variance for mathematical anxiety / Zhe WANG in Journal of Child Psychology and Psychiatry, 55-9 (September 2014)
[article]
Titre : Who is afraid of math? Two sources of genetic variance for mathematical anxiety Type de document : Texte imprimé et/ou numérique Auteurs : Zhe WANG, Auteur ; Sara Ann HART, Auteur ; Yulia KOVAS, Auteur ; Sarah LUKOWSKI, Auteur ; Brooke SODEN, Auteur ; Lee A. THOMPSON, Auteur ; Robert PLOMIN, Auteur ; Gráinne MCLOUGHLIN, Auteur ; Christopher W. BARTLETT, Auteur ; Ian M. LYONS, Auteur ; Stephen A. PETRILL, Auteur Article en page(s) : p.1056-1064 Langues : Anglais (eng) Mots-clés : Mathematical anxiety general anxiety math cognition quantitative genetics Index. décimale : PER Périodiques Résumé : Background Emerging work suggests that academic achievement may be influenced by the management of affect as well as through efficient information processing of task demands. In particular, mathematical anxiety has attracted recent attention because of its damaging psychological effects and potential associations with mathematical problem solving and achievement. This study investigated the genetic and environmental factors contributing to the observed differences in the anxiety people feel when confronted with mathematical tasks. In addition, the genetic and environmental mechanisms that link mathematical anxiety with math cognition and general anxiety were also explored. Methods Univariate and multivariate quantitative genetic models were conducted in a sample of 514 12-year-old twin siblings. Results Genetic factors accounted for roughly 40% of the variation in mathematical anxiety, with the remaining being accounted for by child-specific environmental factors. Multivariate genetic analyses suggested that mathematical anxiety was influenced by the genetic and nonfamilial environmental risk factors associated with general anxiety and additional independent genetic influences associated with math-based problem solving. Conclusions The development of mathematical anxiety may involve not only exposure to negative experiences with mathematics, but also likely involves genetic risks related to both anxiety and math cognition. These results suggest that integrating cognitive and affective domains may be particularly important for mathematics and may extend to other areas of academic achievement. En ligne : http://dx.doi.org/10.1111/jcpp.12224 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238
in Journal of Child Psychology and Psychiatry > 55-9 (September 2014) . - p.1056-1064[article] Who is afraid of math? Two sources of genetic variance for mathematical anxiety [Texte imprimé et/ou numérique] / Zhe WANG, Auteur ; Sara Ann HART, Auteur ; Yulia KOVAS, Auteur ; Sarah LUKOWSKI, Auteur ; Brooke SODEN, Auteur ; Lee A. THOMPSON, Auteur ; Robert PLOMIN, Auteur ; Gráinne MCLOUGHLIN, Auteur ; Christopher W. BARTLETT, Auteur ; Ian M. LYONS, Auteur ; Stephen A. PETRILL, Auteur . - p.1056-1064.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 55-9 (September 2014) . - p.1056-1064
Mots-clés : Mathematical anxiety general anxiety math cognition quantitative genetics Index. décimale : PER Périodiques Résumé : Background Emerging work suggests that academic achievement may be influenced by the management of affect as well as through efficient information processing of task demands. In particular, mathematical anxiety has attracted recent attention because of its damaging psychological effects and potential associations with mathematical problem solving and achievement. This study investigated the genetic and environmental factors contributing to the observed differences in the anxiety people feel when confronted with mathematical tasks. In addition, the genetic and environmental mechanisms that link mathematical anxiety with math cognition and general anxiety were also explored. Methods Univariate and multivariate quantitative genetic models were conducted in a sample of 514 12-year-old twin siblings. Results Genetic factors accounted for roughly 40% of the variation in mathematical anxiety, with the remaining being accounted for by child-specific environmental factors. Multivariate genetic analyses suggested that mathematical anxiety was influenced by the genetic and nonfamilial environmental risk factors associated with general anxiety and additional independent genetic influences associated with math-based problem solving. Conclusions The development of mathematical anxiety may involve not only exposure to negative experiences with mathematics, but also likely involves genetic risks related to both anxiety and math cognition. These results suggest that integrating cognitive and affective domains may be particularly important for mathematics and may extend to other areas of academic achievement. En ligne : http://dx.doi.org/10.1111/jcpp.12224 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238 Teacher assessments during compulsory education are as reliable, stable and heritable as standardized test scores / K. RIMFELD in Journal of Child Psychology and Psychiatry, 60-12 (December 2019)
[article]
Titre : Teacher assessments during compulsory education are as reliable, stable and heritable as standardized test scores Type de document : Texte imprimé et/ou numérique Auteurs : K. RIMFELD, Auteur ; M. MALANCHINI, Auteur ; L. J. HANNIGAN, Auteur ; Philip S. DALE, Auteur ; R. ALLEN, Auteur ; S. A. HART, Auteur ; R. PLOMIN, Auteur Article en page(s) : p.1278-1288 Langues : Anglais (eng) Mots-clés : Educational achievement quantitative genetics standardized exams teacher assessment twin models Index. décimale : PER Périodiques Résumé : BACKGROUND: Children in the UK go through rigorous teacher assessments and standardized exams throughout compulsory (elementary and secondary) education, culminating with the GCSE exams (General Certificate of Secondary Education) at the age of 16 and A-level exams (Advanced Certificate of Secondary Education) at the age of 18. These exams are a major tipping point directing young individuals towards different lifelong trajectories. However, little is known about the associations between teacher assessments and exam performance or how well these two measurement approaches predict educational outcomes at the end of compulsory education and beyond. METHODS: The current investigation used the UK-representative Twins Early Development Study (TEDS) sample of over 5,000 twin pairs studied longitudinally from childhood to young adulthood (age 7-18). We used teacher assessment and exam performance across development to investigate, using genetically sensitive designs, the associations between teacher assessment and standardized exam scores, as well as teacher assessments' prediction of exam scores at ages 16 and 18, and university enrolment. RESULTS: Teacher assessments of achievement are as reliable, stable and heritable (~60%) as test scores at every stage of the educational experience. Teacher and test scores correlate strongly phenotypically (r ~ .70) and genetically (genetic correlation ~.80) both contemporaneously and over time. Earlier exam performance accounts for additional variance in standardized exam results (~10%) at age 16, when controlling for teacher assessments. However, exam performance explains less additional variance in later academic success, ~5% for exam grades at 18, and ~3% for university entry, when controlling for teacher assessments. Teacher assessments also predict additional variance in later exam performance and university enrolment, when controlling for previous exam scores. CONCLUSIONS: Teachers can reliably and validly monitor students' progress, abilities and inclinations. High-stakes exams may shift educational experience away from learning towards exam performance. For these reasons, we suggest that teacher assessments could replace some, or all, high-stakes exams. En ligne : http://dx.doi.org/10.1111/jcpp.13070 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412
in Journal of Child Psychology and Psychiatry > 60-12 (December 2019) . - p.1278-1288[article] Teacher assessments during compulsory education are as reliable, stable and heritable as standardized test scores [Texte imprimé et/ou numérique] / K. RIMFELD, Auteur ; M. MALANCHINI, Auteur ; L. J. HANNIGAN, Auteur ; Philip S. DALE, Auteur ; R. ALLEN, Auteur ; S. A. HART, Auteur ; R. PLOMIN, Auteur . - p.1278-1288.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 60-12 (December 2019) . - p.1278-1288
Mots-clés : Educational achievement quantitative genetics standardized exams teacher assessment twin models Index. décimale : PER Périodiques Résumé : BACKGROUND: Children in the UK go through rigorous teacher assessments and standardized exams throughout compulsory (elementary and secondary) education, culminating with the GCSE exams (General Certificate of Secondary Education) at the age of 16 and A-level exams (Advanced Certificate of Secondary Education) at the age of 18. These exams are a major tipping point directing young individuals towards different lifelong trajectories. However, little is known about the associations between teacher assessments and exam performance or how well these two measurement approaches predict educational outcomes at the end of compulsory education and beyond. METHODS: The current investigation used the UK-representative Twins Early Development Study (TEDS) sample of over 5,000 twin pairs studied longitudinally from childhood to young adulthood (age 7-18). We used teacher assessment and exam performance across development to investigate, using genetically sensitive designs, the associations between teacher assessment and standardized exam scores, as well as teacher assessments' prediction of exam scores at ages 16 and 18, and university enrolment. RESULTS: Teacher assessments of achievement are as reliable, stable and heritable (~60%) as test scores at every stage of the educational experience. Teacher and test scores correlate strongly phenotypically (r ~ .70) and genetically (genetic correlation ~.80) both contemporaneously and over time. Earlier exam performance accounts for additional variance in standardized exam results (~10%) at age 16, when controlling for teacher assessments. However, exam performance explains less additional variance in later academic success, ~5% for exam grades at 18, and ~3% for university entry, when controlling for teacher assessments. Teacher assessments also predict additional variance in later exam performance and university enrolment, when controlling for previous exam scores. CONCLUSIONS: Teachers can reliably and validly monitor students' progress, abilities and inclinations. High-stakes exams may shift educational experience away from learning towards exam performance. For these reasons, we suggest that teacher assessments could replace some, or all, high-stakes exams. En ligne : http://dx.doi.org/10.1111/jcpp.13070 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412