Atefrad_2025_IBRO.Neurosci.Rep_18_306

Autism Spectrum Disorder (ASD) is a developmental disorder characterized by impaired social interaction, communication skills, and repetitive behaviours. This study aimed to investigate the association between variants of the Neuroligin-4 (NLGN4) gene (rs1882260 and rs3810688) and the incidence of ASD in North of Iran in the ASD group (n = 60) and control group (n = 60). DNA was isolated from whole blood, saliva, or hair samples. The targeted variants were genotyped using the Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) technique. Genetic analyses were conducted using SNPAlyze ver. 8.1. Results revealed a significant difference of rs3810688 polymorphism in the NLGN4 gene in both genotypic and allelic frequency distributions between the ASD and control groups (P < 0.05). The GG genotype of rs3810688 polymorphism exhibited a significant association with an elevated risk of ASD in contrast to the CC genotype, as revealed under the co-dominant model (OR=4.2; 95 %CI, 1.25-14.05; P = 0.019). The study illustrated the possible role of rs3810688 polymorphism of NLGN4 in increasing the incidence of ASD among newborns in Guilan province. Also, the G-C haplotype was found to be a protective variant against ASD.