ABSTRACT
Background: Genomic variations in mono-ADP ribosylhydrolase 2 (MACROD2) have been associated with autism spectrum disorder (ASD) in recent genome-wide studies and case reports. In this study, we aimed to evaluate the MACROD2 expression profile in patients with ASD. Methods: The study group included 100 children with a DSM-5 diagnosis of ASD, and the control group consisted of 105 healthy controls. Blood samples were obtained from all participants in this study, and the gene expression level was determined using quantitative reverse transcription PCR (RT-qPCR). Statistical analysis was performed with R 3.4.0 and Statistical Program for Social Sciences (SPSS for Windows, 21.0). Results: The mean ages of the participants in the study and control groups were 9.22 ± 3.62 and 9.27 ± 3.86 years, respectively. There was no significant difference concerning gender (P = .944) and age (P = .914) between the 2 groups. MACROD2 gene expression was found to be decreased in the study group compared to the control group (study group = 5.73, control group = 89.56; fold change =-3.967; P < .001). While the level of MACROD2 expression was not correlated with the ASD severity, it was associated with the severity of the hyperactivity/impulsivity symptoms (P = .008). Conclusions: This is the first study in the literature investigating the peripheral expression of the MACROD2 gene. We showed that the expression level of MACROD2 was decreased in patients with ASD when compared to the control group. As the relationship between the MACROD2 gene expression profile and ASD remains to be further investigated, this study may provide an insight for further studies.
