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Subject Area

Pathology

Article Type

Original Study

Abstract

Background: Serotonin (5-HTR) plays an essential role in prenatal and postnatal brain development. It affects emotional expression, social behavior, and immune cell development. Serotonin system polymorphisms are thought to have a significant role in the pathogenesis of autism. Objectives: The aim of this study was to evaluate the association of serotonin receptor (HTR2A) (rs6313 and rs7997012) gene polymorphism in Autism Spectrum Disorders (ASD) and correlate it with serum level of serotonin in Egyptian children. Methods: This case-control study was conducted on fifty children with ASD and fifty apparently healthy children as controls. Clinical and neurological examinations were done to all subjects, severity of ASD was evaluated by Childhood Autism Rating Scale (CARS). Results: Regarding rs7997012, GA genotype and its A allele had a significant high frequency in patient group While GG genotype and its G allele predominate in control group (P < 0.001). Regarding rs6313, CT genotype and its T allele had a significant high frequency in patient group, while CC genotype and its C allele predominate in control group (p

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