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Gene by environment interactions influencing reading disability and the inattentive symptom dimension of attention deficit/hyperactivity disorder / Jenni ROSENBERG in Journal of Child Psychology and Psychiatry, 53-3 (March 2012)
[article]
Titre : Gene by environment interactions influencing reading disability and the inattentive symptom dimension of attention deficit/hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jenni ROSENBERG, Auteur ; Bruce F. PENNINGTON, Auteur ; Erik G. WILLCUTT, Auteur ; Richard K. OLSON, Auteur Année de publication : 2012 Article en page(s) : p.243-251 Langues : Anglais (eng) Mots-clés : Gene environment interactions reading disability attention deficit/hyperactivity disorder bioecological diathesis-stress Index. décimale : PER Périodiques Résumé : Background: Reading disability (RD) and attention deficit/hyperactivity disorder (ADHD) are comorbid and genetically correlated, especially the inattentive dimension of ADHD (ADHD-I). However, previous research indicates that RD and ADHD enter into opposite gene by environment (G × E) interactions. Methods: This study used behavioral genetic methods to replicate these opposite G × E interactions in a sample of same-sex monozygotic and dizygotic twin pairs from the Colorado Learning Disabilities Research Center (CLDRC; DeFries et al., 1997) and to test a genetic hypothesis for why these opposite interactions occur. Results: We replicated opposite G × E interactions for RD (bioecological) and ADHD-I (diathesis-stress) with parental education in the same sample of participants. The genetic hypothesis for this opposite pattern of interactions is that only genes specific to each disorder enter into these opposite interactions, not the shared genes underlying their comorbidity. To test this hypothesis, we used single models with an exploratory three-way interaction, in which the G × E interactions for each disorder were moderated by comorbidity. Neither three-way interaction was significant. The heritability of RD did not vary as a function of parental education and ADHD-I. Similarly, the heritability of ADHD-I did not vary as a function of parental education and RD. Conclusions: We documented opposite G × E interactions in RD and ADHD-I in the same overall twin sample, but the explanation for this apparent paradox remains unclear. Examining specific genes and more specific environmental factors may help resolve the paradox. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02452.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=152
in Journal of Child Psychology and Psychiatry > 53-3 (March 2012) . - p.243-251[article] Gene by environment interactions influencing reading disability and the inattentive symptom dimension of attention deficit/hyperactivity disorder [Texte imprimé et/ou numérique] / Jenni ROSENBERG, Auteur ; Bruce F. PENNINGTON, Auteur ; Erik G. WILLCUTT, Auteur ; Richard K. OLSON, Auteur . - 2012 . - p.243-251.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 53-3 (March 2012) . - p.243-251
Mots-clés : Gene environment interactions reading disability attention deficit/hyperactivity disorder bioecological diathesis-stress Index. décimale : PER Périodiques Résumé : Background: Reading disability (RD) and attention deficit/hyperactivity disorder (ADHD) are comorbid and genetically correlated, especially the inattentive dimension of ADHD (ADHD-I). However, previous research indicates that RD and ADHD enter into opposite gene by environment (G × E) interactions. Methods: This study used behavioral genetic methods to replicate these opposite G × E interactions in a sample of same-sex monozygotic and dizygotic twin pairs from the Colorado Learning Disabilities Research Center (CLDRC; DeFries et al., 1997) and to test a genetic hypothesis for why these opposite interactions occur. Results: We replicated opposite G × E interactions for RD (bioecological) and ADHD-I (diathesis-stress) with parental education in the same sample of participants. The genetic hypothesis for this opposite pattern of interactions is that only genes specific to each disorder enter into these opposite interactions, not the shared genes underlying their comorbidity. To test this hypothesis, we used single models with an exploratory three-way interaction, in which the G × E interactions for each disorder were moderated by comorbidity. Neither three-way interaction was significant. The heritability of RD did not vary as a function of parental education and ADHD-I. Similarly, the heritability of ADHD-I did not vary as a function of parental education and RD. Conclusions: We documented opposite G × E interactions in RD and ADHD-I in the same overall twin sample, but the explanation for this apparent paradox remains unclear. Examining specific genes and more specific environmental factors may help resolve the paradox. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02452.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=152 Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents / Armin RAZNAHAN in Autism Research, 5-2 (April 2012)
[article]
Titre : Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents Type de document : Texte imprimé et/ou numérique Auteurs : Armin RAZNAHAN, Auteur ; Yohan LEE, Auteur ; Catherine VAITUZIS, Auteur ; Lan TRAN, Auteur ; Susan MACKIE, Auteur ; Henning TIEMEIER, Auteur ; Liv S. CLASEN, Auteur ; Francois LALONDE, Auteur ; Deanna GREENSTEIN, Auteur ; Ron PIERSON, Auteur ; Jay N. GIEDD, Auteur Année de publication : 2012 Article en page(s) : p.93-100 Langues : Anglais (eng) Mots-clés : autism HOXA1 cerebellum gene brain MRI Index. décimale : PER Périodiques Résumé : Homeobox A1 (HOXA1) has been proposed as a candidate gene for autism spectrum disorder (ASD) as it regulates embryological patterning of hind-brain structures implicated in autism neurobiology. In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1—A218G (rs10951154)—has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. Despite evidence for early onset and developmentally dynamic cerebellar involvement in ASD, little is known of the relationship between A218G genotype and maturation of the cerebellum over early development. We addressed this issue using 296 longitudinally acquired structural magnetic resonance imaging brain scans from 116 healthy individuals between 5 and 23 years of age. Mixed models were used to compare the relationship between age and semi-automated measures of cerebellar volume in A-homozygotes (AA) and carriers of the G allele (Gcar). Total cerebellar volume increased between ages of 5 and 23 years in both groups. However, this was accelerated in the Gcar relative to the AA group (Genotype-by-age interaction term, P = 0.03), and driven by genotype-dependent differences in the rate of bilateral superior posterior lobar volume change with age (P = 0.002). Resultantly, although superior posterior lobar volume did not differ significantly between genotype groups at age 5 (P = 0.9), by age 23 it was 12% greater in Gcar than AA (P = 0.002). Our results suggest that common genetic variation within this putative ASD risk gene has the capacity to modify the development of cerebellar systems implicated in ASD neurobiology. En ligne : http://dx.doi.org/10.1002/aur.238 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.93-100[article] Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents [Texte imprimé et/ou numérique] / Armin RAZNAHAN, Auteur ; Yohan LEE, Auteur ; Catherine VAITUZIS, Auteur ; Lan TRAN, Auteur ; Susan MACKIE, Auteur ; Henning TIEMEIER, Auteur ; Liv S. CLASEN, Auteur ; Francois LALONDE, Auteur ; Deanna GREENSTEIN, Auteur ; Ron PIERSON, Auteur ; Jay N. GIEDD, Auteur . - 2012 . - p.93-100.
Langues : Anglais (eng)
in Autism Research > 5-2 (April 2012) . - p.93-100
Mots-clés : autism HOXA1 cerebellum gene brain MRI Index. décimale : PER Périodiques Résumé : Homeobox A1 (HOXA1) has been proposed as a candidate gene for autism spectrum disorder (ASD) as it regulates embryological patterning of hind-brain structures implicated in autism neurobiology. In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1—A218G (rs10951154)—has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. Despite evidence for early onset and developmentally dynamic cerebellar involvement in ASD, little is known of the relationship between A218G genotype and maturation of the cerebellum over early development. We addressed this issue using 296 longitudinally acquired structural magnetic resonance imaging brain scans from 116 healthy individuals between 5 and 23 years of age. Mixed models were used to compare the relationship between age and semi-automated measures of cerebellar volume in A-homozygotes (AA) and carriers of the G allele (Gcar). Total cerebellar volume increased between ages of 5 and 23 years in both groups. However, this was accelerated in the Gcar relative to the AA group (Genotype-by-age interaction term, P = 0.03), and driven by genotype-dependent differences in the rate of bilateral superior posterior lobar volume change with age (P = 0.002). Resultantly, although superior posterior lobar volume did not differ significantly between genotype groups at age 5 (P = 0.9), by age 23 it was 12% greater in Gcar than AA (P = 0.002). Our results suggest that common genetic variation within this putative ASD risk gene has the capacity to modify the development of cerebellar systems implicated in ASD neurobiology. En ligne : http://dx.doi.org/10.1002/aur.238 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 Brief Report: A Gene Enrichment Approach Applied to Sleep and Autism / Emily A. ABEL in Journal of Autism and Developmental Disorders, 50-5 (May 2020)
[article]
Titre : Brief Report: A Gene Enrichment Approach Applied to Sleep and Autism Type de document : Texte imprimé et/ou numérique Auteurs : Emily A. ABEL, Auteur ; A. J. SCHWICHTENBERG, Auteur ; Olivia R MANNIN, Auteur ; Kristine MARCEAU, Auteur Article en page(s) : p.1834-1840 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Circadian Gene Melatonin Sleep Syndrome Index. décimale : PER Périodiques Résumé : Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment, melatonin synthesis, and several genetic syndromes. An over-representation analysis identified several enriched pathways that suggest dopamine and serotonin synapses as potential shared SD and ASD mechanisms. This overlapping gene set and the highlighted biological pathways may serve as a preliminary stepping-stone for new genetic investigations of SD and ASD comorbidity. En ligne : http://dx.doi.org/10.1007/s10803-019-03921-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422
in Journal of Autism and Developmental Disorders > 50-5 (May 2020) . - p.1834-1840[article] Brief Report: A Gene Enrichment Approach Applied to Sleep and Autism [Texte imprimé et/ou numérique] / Emily A. ABEL, Auteur ; A. J. SCHWICHTENBERG, Auteur ; Olivia R MANNIN, Auteur ; Kristine MARCEAU, Auteur . - p.1834-1840.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-5 (May 2020) . - p.1834-1840
Mots-clés : Autism spectrum disorder Circadian Gene Melatonin Sleep Syndrome Index. décimale : PER Périodiques Résumé : Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment, melatonin synthesis, and several genetic syndromes. An over-representation analysis identified several enriched pathways that suggest dopamine and serotonin synapses as potential shared SD and ASD mechanisms. This overlapping gene set and the highlighted biological pathways may serve as a preliminary stepping-stone for new genetic investigations of SD and ASD comorbidity. En ligne : http://dx.doi.org/10.1007/s10803-019-03921-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422 Research Review: Gene–environment interaction research in youth depression – a systematic review with recommendations for future research / Erin C. DUNN in Journal of Child Psychology and Psychiatry, 52-12 (December 2011)
[article]
Titre : Research Review: Gene–environment interaction research in youth depression – a systematic review with recommendations for future research Type de document : Texte imprimé et/ou numérique Auteurs : Erin C. DUNN, Auteur ; Monica UDDIN, Auteur ; S.V. SUBRAMANIAN, Auteur ; Jordan W. SMOLLER, Auteur ; Sandro GALEA, Auteur ; Karestan C. KOENEN, Auteur Année de publication : 2011 Article en page(s) : p.1223-1338 Langues : Anglais (eng) Mots-clés : Depression children adolescents youth gene environment interaction Index. décimale : PER Périodiques Résumé : Background: Depression is a major public health problem among youth, currently estimated to affect as many as 9% of US children and adolescents. The recognition that both genes (nature) and environments (nurture) are important for understanding the etiology of depression has led to a rapid growth in research exploring gene–environment interactions (GxE). However, there has been no systematic review of GxE in youth depression to date.
Methods: The goal of this article was to systematically review evidence on the contribution of GxE to the risk of child and adolescent depression. Through a search of PubMed and PsycINFO databases to 1 April 2010, we identified 20 candidate gene–environment interaction studies focused on depression in youth (up to age 26) and compared each study in terms of the following characteristics: research design and sample studied; measure of depression and environment used; genes explored; and GxE findings in relation to these factors.
Results: In total, 80% of studies (n = 16) found at least one significant GxE association. However, there was wide variation in methods and analyses adopted across studies, especially with respect to environmental measures used and tests conducted to estimate GxE. This heterogeneity made it difficult to compare findings and evaluate the strength of the evidence for GxE.
Conclusions: The existing body of GxE research on depression in youth contains studies that are conceptually and methodologically quite different, which contributes to mixed findings and makes it difficult to assess the current state of the evidence. To decrease this heterogeneity, we offer 20 recommendations that are focused on: (a) reporting GxE research; (b) testing and reporting GxE effects; (c) conceptualizing, measuring and analyzing depression; (d) conceptualizing, measuring and analyzing environment; (e) increasing power to test for GxE; and (f) improving the quality of genetic data used. Although targeted to GxE research on depression, these recommendations can be adopted by GxE researchers focusing on other mental health outcomes.En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02466.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=146
in Journal of Child Psychology and Psychiatry > 52-12 (December 2011) . - p.1223-1338[article] Research Review: Gene–environment interaction research in youth depression – a systematic review with recommendations for future research [Texte imprimé et/ou numérique] / Erin C. DUNN, Auteur ; Monica UDDIN, Auteur ; S.V. SUBRAMANIAN, Auteur ; Jordan W. SMOLLER, Auteur ; Sandro GALEA, Auteur ; Karestan C. KOENEN, Auteur . - 2011 . - p.1223-1338.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 52-12 (December 2011) . - p.1223-1338
Mots-clés : Depression children adolescents youth gene environment interaction Index. décimale : PER Périodiques Résumé : Background: Depression is a major public health problem among youth, currently estimated to affect as many as 9% of US children and adolescents. The recognition that both genes (nature) and environments (nurture) are important for understanding the etiology of depression has led to a rapid growth in research exploring gene–environment interactions (GxE). However, there has been no systematic review of GxE in youth depression to date.
Methods: The goal of this article was to systematically review evidence on the contribution of GxE to the risk of child and adolescent depression. Through a search of PubMed and PsycINFO databases to 1 April 2010, we identified 20 candidate gene–environment interaction studies focused on depression in youth (up to age 26) and compared each study in terms of the following characteristics: research design and sample studied; measure of depression and environment used; genes explored; and GxE findings in relation to these factors.
Results: In total, 80% of studies (n = 16) found at least one significant GxE association. However, there was wide variation in methods and analyses adopted across studies, especially with respect to environmental measures used and tests conducted to estimate GxE. This heterogeneity made it difficult to compare findings and evaluate the strength of the evidence for GxE.
Conclusions: The existing body of GxE research on depression in youth contains studies that are conceptually and methodologically quite different, which contributes to mixed findings and makes it difficult to assess the current state of the evidence. To decrease this heterogeneity, we offer 20 recommendations that are focused on: (a) reporting GxE research; (b) testing and reporting GxE effects; (c) conceptualizing, measuring and analyzing depression; (d) conceptualizing, measuring and analyzing environment; (e) increasing power to test for GxE; and (f) improving the quality of genetic data used. Although targeted to GxE research on depression, these recommendations can be adopted by GxE researchers focusing on other mental health outcomes.En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02466.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=146 Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) / Katri KANTOJARVI in Autism Research, 4-3 (June 2011)
[article]
Titre : Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) Type de document : Texte imprimé et/ou numérique Auteurs : Katri KANTOJARVI, Auteur ; Ilona KOTALA, Auteur ; Karola REHNSTROM, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Raija VANHALA, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Lennart VON WENDT, Auteur ; Irma JARVELA, Auteur Année de publication : 2011 Article en page(s) : p.228-233 Langues : Anglais (eng) Mots-clés : ACSL4 autism spectrum disorders DLG3 gene IL1RAPL2 linkage RPS6KA6 single nucleotide polymorphism ZNF711 XLMR Index. décimale : PER Périodiques Résumé : About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPLall value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33. En ligne : http://dx.doi.org/10.1002/aur.187 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.228-233[article] Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) [Texte imprimé et/ou numérique] / Katri KANTOJARVI, Auteur ; Ilona KOTALA, Auteur ; Karola REHNSTROM, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Raija VANHALA, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Lennart VON WENDT, Auteur ; Irma JARVELA, Auteur . - 2011 . - p.228-233.
Langues : Anglais (eng)
in Autism Research > 4-3 (June 2011) . - p.228-233
Mots-clés : ACSL4 autism spectrum disorders DLG3 gene IL1RAPL2 linkage RPS6KA6 single nucleotide polymorphism ZNF711 XLMR Index. décimale : PER Périodiques Résumé : About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPLall value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33. En ligne : http://dx.doi.org/10.1002/aur.187 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127