TY  - JOUR
AU  - Mashayekhi, Farhad
AU  - Khalili, Masoumeh
AU  - Salehi, Zivar
PY  - 2026
DA  - 2026/06/15
TI  - Association of EGF +61A/G (rs4444903) Polymorphism and Serum EGF Levels with Autism Spectrum Disorder: A Case–Control Study
JO  - OBM Neurobiology
SP  - 339
VL  - 10
IS  - 02
AB  - Research has demonstrated the significant role of epidermal growth factor (EGF) in synaptic plasticity and the pathogenesis of Autism spectrum disorder (ASD). This study aimed to assess the correlation between EGF +61A/G (rs4444903) polymorphism and its serum level with ASD. Blood samples were collected from 200 ASD and 200 controls for DNA extraction, and genotyping was carried out using Restriction Fragment Length Polymorphism (RFLP). Additionally, EGF serum concentration was determined using enzyme-linked immunosorbent assay (ELISA). In ASD, the frequencies of GG, AG, and AA genotypes were 15%, 41%, and 44%, respectively, while in controls, they were 5%, 30%, and 65%. The genotypes of rs4444903 demonstrated an influential contribution to the susceptibility to ASD under co-dominant (GG versus AA), recessive (GG versus AA+AG), and dominant (AG+GG versus AA) models. Additionally, the frequencies of A and G alleles were 68.8% and 31.2% in ASD, and 79.8% and 20.2% in controls, respectively (P < 0.0001). Furthermore, the G allele was found to be associated with an increased risk of ASD (P = 0.0001). Notably, the EGF concentration in the serum samples of the ASD group was lower than in controls (792.65 ± 178.19 and 1265 ± 213.32 pg/ml, respectively; P = 0.0001). In ASD patients, the GG genotype is connected to lower serum EGF levels. The serum concentrations for carriers of GG, AG, and AA were measured at 515 ± 109.63, 716.22 ± 102.26, and 886.11 ± 119.69 pg/ml, respectively. The results of this project suggest that there may be a relationship between the EGF +61A/G (rs4444903) polymorphism and its serum levels with the risk of ASD. Furthermore, the GG genotype seems to be linked to decreased EGF expression in individuals with ASD.
SN  - 2573-4407
UR  - https://doi.org/10.21926/obm.neurobiol.2602339
DO  - 10.21926/obm.neurobiol.2602339
ID  - Mashayekhi2026
ER  -