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Subject Area

Pediatrics

Article Type

Original Study

Abstract

Background Reelin (RELN) is a large secreted extracellular matrix glycoprotein that regulates processes of neuronal migration and positioning in the developing brain by controlling cell–cell interactions. RELN has been suggested to be implicated in pathogenesis of several brain diseases. Autism is a developmental disorder that appears in the first 3 years of life, and affects the brain's normal development of social and communication skills. Aim The purpose of this case–controlled study was to explore the linkage between RELN gene polymorphism (rs2229864) with autism. Patients and methods In total, 180 Egyptian children were enrolled in this study, including 120 children with autism and 60 age-matched and sex-matched controls. Genotyping was performed for RELN (rs2229864) gene using Taqman allelic-discrimination (real-time PCR) technique. Results The patients were randomly selected from those attending at the Pediatric Neurology outpatient clinic, Department of Pediatrics, Menoufia University Hospitals, in the period from October 2019 to July 2020. This table shows a nonsignificant difference between the studied groups regarding sociodemographic characteristics (P > 0.05). rs2229864 CC genotype or C allele were significantly more prevalent among cases of autism than controls, while rs2229864 TT genotype or T allele were significantly less prevalent among autism cases than controls (P < 0.001). Conclusions SNP rs2229864 may be considered a potential risk factor for genetic predisposition and severity of autism in a sample of Egyptian population. Further gene-expression research with larger samples representative of various populations creates new opportunities for clarifying autism's etiology, potentially leading to advances in prevention and management of the condition.

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