Clin Psychopharmacol Neurosci 2018; 16(4): 415-421  
No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children
Sevcan Tug Bozdogan1,*, Meryem Ozlem Kutuk2,*, Evren Tufan3, Zuhal Altıntaş4, Gülhan Orekici Temel5, Fevziye Toros6
1Department of Medical Genetics, School of Medicine, Çukurova University, Adana, 2Department of Child and Adolescent Psychiatry, School of Medicine, Başkent University, Adana, 3Department of Child and Adolescent Psychiatry, School of Medicine, Abant Izzet Baysal University, Bolu, Departments of 4Medical Genetics, 5Biostatistics and Medical Informatics, 6Child and Adolescent Psychiatry, School of Medicine, Mersin University, Mersin, Turkey
Correspondence to: Sevcan Tug Bozdogan, MD
Department of Medical Genetics, Cukurova University, Saricam, Adana 01100, Turkey
Tel: +90-5052347082, Fax: +90-322-338694
*These authors contributed equally to this work.
Received: May 9, 2017; Revised: July 7, 2017; Accepted: July 8, 2017; Published online: November 30, 2018.
© The Korean College of Neuropsychopharmacology. All rights reserved.

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Objective: Autism 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 environmental 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.
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 polymerase chain reaction 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 receptors; Calcitriol receptors; Genetic polymorphism.

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