Genetic Variations and Serum Levels of Leptin and Ghrelin in Autism Spectrum Disorder

Background: This study aims to examine leptin and ghrelin gene polymorphisms and serum levels in children with autism spectrum disorder (ASD).

Methods: The study comprised a case group of 40 children aged 2-7 diagnosed with ASD and a control group of 40 healthy children. The severity of ASD symptoms was assessed using the Childhood Autism Rating Scale and the Autism Behavior Checklist. Leptin and ghrelin gene variants were genotyped using polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) methods. Serum ghrelin and leptin levels were measured using enzyme-linked immunosorbent assay kits.

Results: In this study, gene polymorphisms and allele frequencies were examined, and no significant difference was found (P > .05 for all). Our findings indicated no significant difference in leptin serum levels between the groups (P=.584). However, ghrelin serum levels were significantly lower in the ASD group (P=.027). Receiver operating curve analysis to determine the cutoff value of serum ghrelin level as a diagnostic indicator for ASD resulted in a cutoff value of 885.7 pg/mL with 42.50% sensitivity and 85% specificity (P=.021). No significant relationship was found between leptin and ghrelin serum levels and the severity of ASD (P > .05 for all).

Conclusion: Our study is the first to evaluate leptin and ghrelin gene polymorphisms in ASD. Our findings indicate no association between leptin and ghrelin gene polymorphisms and ASD. However, our study suggests that ghrelin serum levels may potentially contribute to the etiology of ASD. More research is needed to understand the role of leptin and ghrelin in ASD.

Cite this article as: Yazici ÖN, Şahin N, Özdemir Ç, et al. Genetic variations and serum levels of leptin and ghrelin in autism spectrum disorder. Psychiatry Clin Psychopharmacol. 2024;34(3):221-228.