{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pettigrew KA"],"funding":["Wolfson Foundation","Medical Research Council","Esther Yewpick Lee Millennium","Royal Society","Wellcome Trust"],"pagination":["24"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4908686"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8"],"pubmed_abstract":["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 ch"],"journal":["Journal of neurodevelopmental disorders"],"pubmed_title":["Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes."],"pmcid":["PMC4908686"],"funding_grant_id":["UF100463","097831/Z/11/Z","RG110387","G1000569","WT082032MA","G1000569/1","090532/Z/09/Z","G0800523"],"pubmed_authors":["Chan MTM","Hayiou-Thomas ME","Nudel R","Stein J","Frinton E","Paracchini S","Thompson P","Snowling MJ","Pettigrew KA","Hulme C","Newbury DF","Talcott JB","Monaco AP"],"additional_accession":[]},"is_claimable":false,"name":"Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.","description":"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 ch","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016","modification":"2025-06-01T04:18:02.183Z","creation":"2025-06-01T04:18:02.183Z"},"accession":"S-EPMC4908686","cross_references":{"pubmed":["27307794"],"doi":["10.1186/s11689-016-9157-6"]}}