ArticleEuropean journal of human genetics : EJHG2017
Gene-set analysis shows association between FMRP targets and autism spectrum disorder.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.European journal of human genetics : EJHG · 2025Article
- Genetic and Pathogenic Overlaps Between Autism Spectrum Disorder and Alzheimer's Disease: Evolutionary Features and Opportunities for Drug Repurposing.International journal of molecular sciences · 2025Article
- Prognostic development and validation of a prediction model based on major histocompatibility complex-related differentially expressed genes in stomach adenocarcinoma.Translational cancer research · 2025Article
- Predicting podoplanin expression and prognostic significance in high-grade glioma based on TCGA TCIA radiomics.PloS one · 2025Article
- Analyzing Hedgehog pathway-related genes: insights into breast cancer tumor microenvironment and prognostic implications.Frontiers in immunology · 2025Article
- Development of a prognostic gene signature and exploration of P4HA1 in the modulation of cuproptosis in colorectal cancer.Scientific reports · 2024Article
- FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.The Journal of molecular diagnostics : JMD · 2024Article
- Anoikis-related gene signatures in colorectal cancer: implications for cell differentiation, immune infiltration, and prognostic prediction.Scientific reports · 2024Article
- RNA and neuronal function: the importance of post-transcriptional regulation.Oxford open neuroscience · 2022Review
- Gene editing in monogenic autism spectrum disorder: animal models and gene therapies.Frontiers in molecular neuroscience · 2022Review
- SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits.Genome biology · 2021Article
- Genetic association of FMRP targets with psychiatric disorders.Molecular psychiatry · 2021Article
- Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2021Review
- Do Autism Spectrum and Autoimmune Disorders Share Predisposition Gene Signature Due to mTOR Signaling Pathway Controlling Expression?International journal of molecular sciences · 2021Article
- An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.Journal of cellular and molecular medicine · 2021Article
- Synaptic processes and immune-related pathways implicated in Tourette syndrome.Translational psychiatry · 2021Article
- GABAergic System Dysfunction in Autism Spectrum Disorders.Frontiers in cell and developmental biology · 2021Review
- FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability.Complex psychiatry · 2020Review
- Synaptic and brain-expressed gene sets relate to the shared genetic risk across five psychiatric disorders.Psychological medicine · 2020Article
- The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder.NPJ genomic medicine · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
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 gene-sets and gene-sets consisting of fragile X mental retardation protein (FMRP) targets. In total 32 gene-sets were tested. We used Psychiatric Genomics Consortium genome-wide association studies summary statistics of ASD. The study is based on the largest ASD sample to date (N=5305). We found one significantly associated gene-set consisting of FMRP-targeting transcripts (MAGMA: p corr.=0.014, INRICH: p corr.=0.031; all competitive P-values). The results indicate the involvement of FMRP-targeted transcripts in ASD in common genetic variation. This novel finding is in line with the literature as FMRP has been linked to fragile X syndrome, ASD and cognitive development in whole-exome sequencing and copy number variant studies. This gene-set has also been linked to Schizophrenia suggesting that FMRP-targeted transcripts might be involved in a general mechanism with shared genetic etiology between psychiatric disorders.
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