ArticleJournal of neurodevelopmental disorders2016
Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.
Article in Journal of neurodevelopmental disorders, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Exploring Genetic and Neural Risk of Specific Reading Disability within a Nuclear Twin Family Case Study: A Translational Clinical Application.Journal of personalized medicine · 2023Article
- Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion ofMolecular syndromology · 2023Article
- A family-based study of genetic and epigenetic effects across multiple neurocognitive, motor, social-cognitive and social-behavioral functions.Behavioral and brain functions : BBF · 2022Article
- Quantitative multidimensional phenotypes improve genetic analysis of laterality traits.Translational psychiatry · 2022Article
- Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants inBrain sciences · 2021Article
- A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.Human molecular genetics · 2021Article
- Identification of Phonology-Related Genes and Functional Characterization of Broca's and Wernicke's Regions in Language and Learning Disorders.Frontiers in neuroscience · 2021Article
- Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.Journal of speech, language, and hearing research : JSLHR · 2020Article
- Language Impairment with a Partial Duplication ofMolecular syndromology · 2020Article
- Evidence for germline non-genetic inheritance of human phenotypes and diseases.Clinical epigenetics · 2020Review
- Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study.BMC neuroscience · 2020Article
- Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.Frontiers in neuroscience · 2019Article
- Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.Frontiers in genetics · 2019Article
- Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.Molecular syndromology · 2018Article
- Toward the Language Oscillogenome.Frontiers in psychology · 2018Article
- Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.Frontiers in pediatrics · 2018Article
- The DCDC2 deletion is not a risk factor for dyslexia.Translational psychiatry · 2017Article
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Authors and funding
13 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundSpecific 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.
methodsWe 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.
resultsWe 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.
conclusionsA 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.