PDGFRB gene polymorphism in children with autism spectrum disorder

PDGFRB Gene Polymorphism in Children with Autism Spectrum Disorder Objective: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder in which genetic and environmental factors play an important role in etiology. This study aimed to investigate the role of Platelet-Derived Growth Factor Receptor Beta (PDGFRB) gene polymorphism in individuals with ASD and to determine possible relationships. Materials and Methods: Our study is a case-control cross-sectional study conducted in the Department of Child and Adolescent Mental Health and Diseases, Faculty of Medicine, Çukurova University. 50 children with ASD and 50 healthy controls were included in the study. Participants were diagnosed with ASD according to the DSM-5 (Diagnostic and Statistical Classification of Mental Disorders-5) criteria and were matched for age and gender. M-CHAT, ABC and AGTE scales were used for clinical evaluation, and genetic analyses were evaluated with Real-Time PCR (Polymerase Chain Reaction) method for PDGFRB (Platelet-Derived Growth Factor Receptor Beta) gene polymorphism. This is the first study in this field. Findings: The male ratio was found to be significantly higher in the ASD group (p=0.011). The age at which the mother gave birth to the child and the general maternal age were found to be lower in the ASD group, and this difference was statistically significant (p=0.009 and p=0.005). Although there was no significant difference between the groups in PDGFRB gene parameters (p>0.05), allele G level (%7.1) was found to be lower than allele A level (%61.6) in all participants. Conclusion: Further studies supported by larger sample groups and functional analyses are needed to understand the role of PDGFRB gene polymorphisms in neurodevelopmental processes. Keywords: Autism Spectrum Disorder, PDGFRB, gene, polymorphism