SHANK3 Gene Polymorphism Rs2146772569: A Replication in Iraqi Middle Euphrates Children

Abstract

Autism spectrum disorder is a neurodevelopmental condition marked by persistent
challenges in social communication and interaction, along with limited and repetitive behavior,
hobbies, or activities. Neuroimaging and examinations have shown disturbances in the structure
and functioning of the brain, namely in regions responsible for social communication and sensory
processing. Multiple genes contribute to synapse function and plasticity. Shank3 is an example of
a gene that has been linked to a higher risk to autism. It functions by controlling the organization
and activity of synapses, which are vital for neuronal transmission. Several genetic variations in
the shank3 gene have been extensively investigated. Numerous single nucleotide polymorphisms
(SNPs) have been identified and found to have a deleterious impact on the function of this protein.
This study examined the shank3 SNP (Rs2146772569) in Iraqi population. A total of forty healthy
children and thirty children diagnosed with Autism Spectrum disease (ASD) have been selected to
participate in this study. The aim of the study is to examine the relationship between shank3 SNP
and autism spectrum disease in the Iraqi community. Genomic DNA was isolated from blood
samples, followed by PCR amplification and subsequent preparation of the samples for
sequencing.The statistical analysis was conducted using the SPSS software tool. The findings
indicate that the frequency of the C—T allele (CC, CT, and TT genotypes) are 37.5%, 32.5%, and
30% in healthy persons, and 26.67%, 23.33%, and 50% in patients. The frequency of C→T
mutations are 53.75% and 46.25% in healthy persons, and 38.33% and 61.67% in autistic children,
respectively. The findings indicate that there is no notable correlation between this specific single
nucleotide polymorphism (SNP) and autistic spectrum disorder in children from Iraq