Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population.

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

SUBMITTER: Wu Z 

PROVIDER: S-EPMC5442155 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature