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Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here,...

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Detalles Bibliográficos
Autores principales: Hickman, Allison R., Selee, Bradley, Pauly, Rini, Husain, Benafsh, Hang, Yuqing, Feltus, Frank Alex
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465380/
https://www.ncbi.nlm.nih.gov/pubmed/35739433
http://dx.doi.org/10.1007/s10803-022-05631-x
Descripción
Sumario:Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10803-022-05631-x.