Homozygosity for the 10-repeat dopamine transporter (DAT1) allele is associated with reduced EEG response in males with ASD. (April 2019)

• Record Type: Journal Article
• Authors: Sjaarda, Calvin P.; Sabbagh, Mark; Wood, Shalandra; Ward-King, Jessica; McNaughton, Amy J.M.; Hudson, Melissa L.; Tao, Mingda; Ayub, Muhammad; Liu, Xudong
• Is Part Of: Research in autism spectrum disorders. Volume 60(2019)
• Page Start: 25
• Page End: 35
• Publication Date: 2019-04
• Subjects: ASD -- Autism -- Electroencephalogram -- DAT1 -- Dopamine -- Face processing; Autism spectrum disorders -- Periodicals; 616.85882005
• DOI: 10.1016/j.rasd.2018.12.003
• Languages: English
• ISSNs: 1750-9467

Abstract

Highlights: Individuals with ASD and their undiagnosed relatives present similar EEG responses. COMT and OXTR polymorphisms not associated with any specific EEG responses. Homozygosity of the DAT 1 allele can correlate with reduced N170 amplitude. Interaction between a genetic polymorphism and a socially cognitive domain. Abstract: Background: Individuals with autism spectrum disorder (ASD) have reduced interest in human faces and atypical event-related brain potentials (ERPs) in response to face stimuli, suggesting that face processing may be a functional marker of ASD susceptibility. Method: This report explored the visual processing of individuals with ASD (n = 50) compared with their first-degree relatives (n = 117) using electroencephalogram (EEG), and associated EEG response with specific polymorphisms in the COMT, OXTR, SLC6A4 and DAT1 genes. Results: Polymorphisms in the COMT and OXTR genes were not associated with any specific EEG response; on the other hand, the 5-HTTLPR polymorphism located upstream of SLC6A4 was associated with increased latency of the P1 component of the EEG response, and DAT1 genotype correlated with reduced amplitude of the N170 component in male participants with ASD. Conclusion: These results suggest an interaction between DAT1 genotype and male participants with ASD characterized by reduced cognitive performance when processing faces as measured by EEG. Identifying ASD functional markers and grouping individuals with shared genetic biomarkers or endophenotypes may facilitate greater understanding of the heterogeneity underlying ASD leading to improved diagnosis and treatment of ASD.