{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Jansen A"],"funding":["EPA","Dutch Research Council (NWO)"],"pagination":["863-868"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5520067"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(7)"],"pubmed_abstract":["Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH. Gene-set selection was based on previously reported associations with psychiatric disorders and resulted in testing of specific synaptic and glial sets, a glutamate pathway gene-set, mitochondrial g"],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Gene-set analysis shows association between FMRP targets and autism spectrum disorder."],"pmcid":["PMC5520067"],"funding_grant_id":["480-05-003","EP-C-14-005","453-14-005"],"pubmed_authors":["Posthuma D","Polderman TJC","Dieleman GC","Jansen A","Smit AB","Verhage M","Verhulst FC"],"additional_accession":[]},"is_claimable":false,"name":"Gene-set analysis shows association between FMRP targets and autism spectrum disorder.","description":"Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH. Gene-set selection was based on previously reported associations with psychiatric disorders and resulted in testing of specific synaptic and glial sets, a glutamate pathway gene-set, mitochondrial g","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Jun","modification":"2025-04-26T12:31:52.327Z","creation":"2019-03-26T23:43:11Z"},"accession":"S-EPMC5520067","cross_references":{"pubmed":["28422133"],"doi":["10.1038/ejhg.2017.55"]}}