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J Neurogenet. 2016 Sep - Dec;30(3-4):280-284. Epub 2016 Aug 5.

The altered promoter methylation of oxytocin receptor gene in autism.

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a Department of Children and Adolescent Mental Health Clinics , Trabzon Kanuni Research and Training Hospital , Trabzon , Turkey.
b Department of Medical Genetics , Cerrahpasa Medical School, Istanbul University , Istanbul , Turkey.
c Advanced Genomics and Bioinformatics Research Center , The Scientific and Technological Research Council of Turkey (TUBITAK) , Gebze , Kocaeli , Turkey.
d Department of Molecular Biology and Genetics , Erzurum Technical University , Erzurum , Turkey.
e Department of Pathology and Immunology , Baylor College of Medicine , Houston , TX , USA.
f Department of Molecular Biology and Genetics , Biruni University , Istanbul , Turkey.
g Department of Children and Adolescent Mental Health Clinics , Cerrahpasa Medical School, Istanbul University , Istanbul , Turkey.


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.


Autism spectrum disorders; DNA methylation; epigenetics; oxytocin receptor gene; pervasive developmental disorder

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