No Association Between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a sample of Turkish Children
Sevcan Tug Bozdogan 1*, Meryem Ozlem Kutuk 2, Evren Tufan 3, Zuhal Altintas 4, Gulhan Orekici Temel 5, Fevziye Toros 6
1Department of Medical Genetics, Çukurova University, School of Medicine , 2Department of Child and Adolescent Psychiatry, Başkent University, School of Medicine, Adana, , 3Department of Child and Adolescent Psychiatry, Abant Izzet Baysal University, University, School of Medicine , 4Department of Medical Genetics, Mersin University, School of Medicine, 5Department of Biostatistics and Medical Informatics, Mersin University, School of Medicine , 6Department of Child and Adolescent Psychiatry, Mersin University, School of Medicine
Received: May 9, 2017; Revised: July 7, 2017; Accepted: July 8, 2017; Published online: July 8, 2017.
© The Korean College of Neuropsychopharmacology. All rights reserved.

Objective: Autistic spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and enviroenmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature.
Material and Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and Oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using Real Time PCR method.
Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found.
Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.
Keywords: Autism spectrum disorder, Oxytocin receptor, Vitamin D receptor, Polymorphism