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Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes / K. A. PETTIGREW in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
[article]
Titre : Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : K. A. PETTIGREW, Auteur ; E. FRINTON, Auteur ; R. NUDEL, Auteur ; M. T. M. CHAN, Auteur ; P. THOMPSON, Auteur ; M. E. HAYIOU-THOMAS, Auteur ; J. B. TALCOTT, Auteur ; J. STEIN, Auteur ; A. P. MONACO, Auteur ; C. HULME, Auteur ; M. J. SNOWLING, Auteur ; D. F. NEWBURY, Auteur ; S. PARACCHINI, Auteur Article en page(s) : p.24 Langues : Anglais (eng) Mots-clés : Candidate gene Dyslexia Genetic association Language impairment Parent-of-origin Index. décimale : PER Périodiques Résumé : BACKGROUND: Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. METHODS: We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. RESULTS: We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. CONCLUSIONS: A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits. En ligne : http://dx.doi.org/10.1186/s11689-016-9157-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.24[article] Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes [Texte imprimé et/ou numérique] / K. A. PETTIGREW, Auteur ; E. FRINTON, Auteur ; R. NUDEL, Auteur ; M. T. M. CHAN, Auteur ; P. THOMPSON, Auteur ; M. E. HAYIOU-THOMAS, Auteur ; J. B. TALCOTT, Auteur ; J. STEIN, Auteur ; A. P. MONACO, Auteur ; C. HULME, Auteur ; M. J. SNOWLING, Auteur ; D. F. NEWBURY, Auteur ; S. PARACCHINI, Auteur . - p.24.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.24
Mots-clés : Candidate gene Dyslexia Genetic association Language impairment Parent-of-origin Index. décimale : PER Périodiques Résumé : BACKGROUND: Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. METHODS: We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. RESULTS: We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. CONCLUSIONS: A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits. En ligne : http://dx.doi.org/10.1186/s11689-016-9157-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 Sex differences in parent-offspring recurrence of attention-deficit/hyperactivity disorder / B. S. SOLBERG in Journal of Child Psychology and Psychiatry, 62-8 (August 2021)
[article]
Titre : Sex differences in parent-offspring recurrence of attention-deficit/hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : B. S. SOLBERG, Auteur ; T. A. HEGVIK, Auteur ; A. HALMØY, Auteur ; R. SKJAERVEN, Auteur ; A. ENGELAND, Auteur ; J. HAAVIK, Auteur ; K. KLUNGSØYR, Auteur Article en page(s) : p.1010-1018 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology Depressive Disorder, Major Fathers Female Humans Male Norway/epidemiology Parents Risk Factors Sex Characteristics Attention-deficit/hyperactivity disorder epidemiology intergenerational recurrence risk parent-of-origin sex differences Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder sharing genetic risk factors with other common psychiatric disorders. However, intergenerational recurrence patterns of ADHD from parents to sons and daughters are not known. We aimed to examine the risk of ADHD in offspring of parents with ADHD and parents with other psychiatric disorders by parental and offspring sex, using parents without the specific disorders as comparison. METHODS: In a generation study linking data from several population-based registries, all Norwegians born 1967-2011 (n = 2,486,088; Medical Birth Registry of Norway) and their parents were followed to 2015. To estimate intergenerational recurrence risk, we calculated prevalence differences (PD) and the relative risk (RR) of ADHD in offspring by parental ADHD, bipolar disorder (BD), schizophrenia spectrum disorder (SCZ), major depression (MDD), all by parental and offspring sex. RESULTS: The absolute prevalence of ADHD in offspring of parents with ADHD was very high, especially in sons of two affected parents (41.5% and 25.1% in sons and daughters, respectively), and far higher than in offspring of parents with BD, SCZ or MDD. Intergenerational recurrence risks were higher for maternal than paternal ADHD (RR(maternal) 8.4, 95% confidence interval (CI) 8.2-8.6 vs. RR(paternal) 6.2, 6.0-6.4) and this was also true on the absolute scale (PD(maternal) 21.1% (20.5-21.7) vs. PD(paternal) 14.8% (14.3-15.4)). RRs were higher in daughters, while PDs higher in sons. Parental SCZ, BD and MDD were associated with an approximately doubled risk of offspring ADHD compared to parents without the respective disorders, and estimates did not differ significantly between daughters and sons. CONCLUSIONS: The intergenerational recurrence risks of ADHD were high and higher from mothers with ADHD than fathers with ADHD. Other parental psychiatric disorders also conferred increased risk of offspring ADHD, but far lower, indicating a sex- and diagnosis-specific intergenerational recurrence risk in parents with ADHD. En ligne : http://dx.doi.org/10.1111/jcpp.13368 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-8 (August 2021) . - p.1010-1018[article] Sex differences in parent-offspring recurrence of attention-deficit/hyperactivity disorder [Texte imprimé et/ou numérique] / B. S. SOLBERG, Auteur ; T. A. HEGVIK, Auteur ; A. HALMØY, Auteur ; R. SKJAERVEN, Auteur ; A. ENGELAND, Auteur ; J. HAAVIK, Auteur ; K. KLUNGSØYR, Auteur . - p.1010-1018.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-8 (August 2021) . - p.1010-1018
Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology Depressive Disorder, Major Fathers Female Humans Male Norway/epidemiology Parents Risk Factors Sex Characteristics Attention-deficit/hyperactivity disorder epidemiology intergenerational recurrence risk parent-of-origin sex differences Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder sharing genetic risk factors with other common psychiatric disorders. However, intergenerational recurrence patterns of ADHD from parents to sons and daughters are not known. We aimed to examine the risk of ADHD in offspring of parents with ADHD and parents with other psychiatric disorders by parental and offspring sex, using parents without the specific disorders as comparison. METHODS: In a generation study linking data from several population-based registries, all Norwegians born 1967-2011 (n = 2,486,088; Medical Birth Registry of Norway) and their parents were followed to 2015. To estimate intergenerational recurrence risk, we calculated prevalence differences (PD) and the relative risk (RR) of ADHD in offspring by parental ADHD, bipolar disorder (BD), schizophrenia spectrum disorder (SCZ), major depression (MDD), all by parental and offspring sex. RESULTS: The absolute prevalence of ADHD in offspring of parents with ADHD was very high, especially in sons of two affected parents (41.5% and 25.1% in sons and daughters, respectively), and far higher than in offspring of parents with BD, SCZ or MDD. Intergenerational recurrence risks were higher for maternal than paternal ADHD (RR(maternal) 8.4, 95% confidence interval (CI) 8.2-8.6 vs. RR(paternal) 6.2, 6.0-6.4) and this was also true on the absolute scale (PD(maternal) 21.1% (20.5-21.7) vs. PD(paternal) 14.8% (14.3-15.4)). RRs were higher in daughters, while PDs higher in sons. Parental SCZ, BD and MDD were associated with an approximately doubled risk of offspring ADHD compared to parents without the respective disorders, and estimates did not differ significantly between daughters and sons. CONCLUSIONS: The intergenerational recurrence risks of ADHD were high and higher from mothers with ADHD than fathers with ADHD. Other parental psychiatric disorders also conferred increased risk of offspring ADHD, but far lower, indicating a sex- and diagnosis-specific intergenerational recurrence risk in parents with ADHD. En ligne : http://dx.doi.org/10.1111/jcpp.13368 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456