Study of SCN1A and SCN2A Polymorphism in Children with Autistic Spectrum Disorders | ||
| The Egyptian Journal of Hospital Medicine | ||
| Article 29, Volume 101, Issue 1, October 2025, Pages 4787-4795 PDF (692.37 K) | ||
| DOI: 10.21608/ejhm.2025.456827 | ||
| Abstract | ||
| Background: Autism spectrum disorder (ASD) is a set of neurobehavioral diseases. Most excitable cells depend on voltage-gated sodium channels to function normally. The alpha 1 and 2 subunits of the sodium channel are coded by the SCN1A and SCN2A genes. Objective: To investigate the role of SCN1A and SCN2A gene polymorphisms in children with ASD. Patients and Methods: This case-control study was conducted on one hundred children divided as follows: 50 children with autism and 50 healthy controls. The rs 2162600 T/C of SCN1A gene and rs 2304016 A/G of SCN2A gene polymorphisms were genotyped via TaqMan allelic discrimination polymerase chain reaction. Results: It was found that as the age of the mother increases, the risk of autism increases and that first-born children have a greater risk for ASD compared to the later-born ones. The prevalence of epilepsy, obesity, and gestational hypertension in the family history was significantly higher in patients with autism. The frequency of CC and CT genotypes of SCN1A rs 2162600 was higher in the autistic group in comparison with controls. However, this did not reach statistical significance. In addition, no significant difference was observed concerning SCN2A rs 2304016 genotype and allele distribution between the studied groups. Conclusions: No significant association was noticed between SCN1A rs 2162600 and SCN2A rs 2304016 genotypes and alleles with ASD in children. | ||
| Keywords | ||
| Autistic spectrum disorders; Gene polymorphism; SCN1A; SCN2A; Voltage-gated sodium channels | ||
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