Investigation of leptin ghrelin gene polymorphisms and serum levels in children with autism spectrum disorder

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that manifests itself with limited and repetitive behavior patterns, interests, or activities, together with inadequacies in mutual social communication and social interaction from early childhood. Although the etiology of ASD is not fully known, it is believed that it is largely associated with polygenic inheritance and environmental factors interact with genetic factors to increase the risk. In our study, we aimed to investigate the relationship between Leptin Ghrelin gene polymorphisms and serum levels and ASD in children diagnosed with ASD. Forty children aged 2-7 years who were diagnosed with ASD were included in our study as a case group, and 40 age- and sex-matched healthy children were included as a control group. A sociodemographic data form was given to the parents of all children participating in the study. ASD symptom severity of the subjects in the ASD group was evaluated with the Childhood Autism Rating Scale and Autism Behavior Checklist. After 8 hours of fasting, 4 ml of venous blood was collected from all participants in the study between 08.30 and 10.00 in the morning for the examination of Leptin Ghrelin serum levels and gene polymorphisms. As a result of our study; there was no significant difference between the groups in leptin serum levels, Ghrelin serum levels were found to be significantly lower in the ASD group compared to the control group, and Ghrelin serum levels were determined to be an independent risk factor for ASD. As a result of the ROC curve analysis performed to determine the cut-off value of ghrelin serum level as a diagnostic marker of ASD, the cut-off value of serum Ghrelin level was determined as 914.9 pg/ml with 60% sensitivity and 60% specificity. There was no significant relationship between Leptin and Ghrelin serum levels and the severity of ASD symptoms. In the examinations made for Leptin and Ghrelin gene polymorphisms, no significant difference was found in terms of gene polymorphisms, a significant difference was detected between the groups in terms of Ghrelin gene allele frequencies. Keywords: Autism Spectrum Disorder, Leptin, Ghrelin, gene polymorphisms.