The altered promoter methylation of oxytocin receptor gene in autism

M Elagoz Yuksel, B Yuceturk, OF Karatas… - Journal of …, 2016 - Taylor & Francis
M Elagoz Yuksel, B Yuceturk, OF Karatas, M Ozen, B Dogangun
Journal of neurogenetics, 2016Taylor & Francis
Autism spectrum disorder (ASD) is one of the lifelong existing disorders. Abnormal
methylation status of gene promoters of oxytonergic system has been implicated as among
the etiologic factors of ASDs. We, therefore, investigated the methylation frequency of
oxytocin receptor gene (OXTR) promoter from peripheral blood samples of children with
autistic features. Our sample includes 66 children in total (22–94 months); 27 children with
ASDs according to the DSM-IV-TR and the Childhood Autism Rating Scale (CARS) and 39 …
Abstract
Autism spectrum disorder (ASD) is one of the lifelong existing disorders. Abnormal methylation status of gene promoters of oxytonergic system has been implicated as among the etiologic factors of ASDs. We, therefore, investigated the methylation frequency of oxytocin receptor gene (OXTR) promoter from peripheral blood samples of children with autistic features. Our sample includes 66 children in total (22–94 months); 27 children with ASDs according to the DSM-IV-TR and the Childhood Autism Rating Scale (CARS) and 39 children who do not have any autistic like symptoms as the healthy control group. We investigated the DNA methylation status of OXTR promoter by methylation specific enzymatic digestion of genomic DNA and polymerase chain reaction. A significant relationship has been found between ASDs and healthy controls for the reduction of methylation frequency of the regions MT1 and MT3 of OXTR. We could not find any association in the methylation frequency of MT2 and MT4 regions of OXTR. Although our findings indicate high frequency of OXTR promoter hypomethylation in ASDs, there is need for independent replication of the results for a bigger sample set. We expect that future studies with the inclusion of larger, more homogeneous samples will attempt to disentangle the causes of ASDs.
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