ArticleScientific reports2017
Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 11 citations in OpenAlex.
- The role of astrocytes in autism spectrum disorder and associated syndromes: Evidence, animal models, mechanisms, and therapeutic potential.Zoological research · 2026Review
- Single-cell atlas of the developing Down syndrome brain cortex.Nature medicine · 2026Article
- eQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD).Translational psychiatry · 2023Article
- Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.Journal of autism and developmental disorders · 2023Article
- Prenatal delta-9-tetrahydrocannabinol exposure is associated with changes in rhesus macaque DNA methylation enriched for autism genes.Clinical epigenetics · 2023Article
- The gene expression patterns of neuronal cells reveal the pathogenesis of autism.American journal of translational research · 2021Article
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12 authors at 4 institutions in 1 country.
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Abstract
Multiple epidermal growth factor-like-domains 10 (MEGF10), a critical member of the apoptotic engulfment pathway, mediates axon pruning and synapse elimination during brain development. Previous studies indicated that synaptic pruning deficit was associated with autism-related phenotypes. However, the relationship between MEGF10 and autism remains poorly understood. Disease-associated variants are significantly enriched in the transcription regulatory regions. These include the transcription start site (TSS) and its cis-regulatory elements. To investigate the role of MEGF10 variants with putative transcription regulatory function in the etiology of autism, we performed a family-based association study in 410 Chinese Han trios. Our results indicate that three single nucleotide polymorphisms (SNPs), rs4836316, rs2194079 and rs4836317 near the TSS are significantly associated with autism following Bonferroni correction (p = 0.0011, p = 0.0088, and p = 0.0023, respectively). Haplotype T-A-G (rs4836316-rs2194079-rs4836317) was preferentially transmitted from parents to affected offspring (p
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