Insulin-like growth factor-1 circulating concentrations and Promoter Polymorphism in Risk Prediction of children with autism spectrum disorders

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors and nonverbal interactions such as reduced eye contact, facial expression. It is not a single disorder, and it is broadly considered to be a multifactorial disorder resulting from genetic and non-genetic risk factors and their interaction. One of the genes is likely to be the insulin-like growth factor-1 (IGF-1) that is located on the long arm of chromosome 12q23–23 which is known to have diverse effects on brain structure and function. The aim of this project was to study the association of IGF-1gene (rs 12579108) polymorphism and its serum levels with autism patients. DNA was extracted from blood samples of 51 patients (28 boys and 23 girls) and 50 people as a control group (27 boys and 23 girls) and genotyped by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP). IGF-1 serum concentration was studied by enzyme-linked immunosorbent assay (ELISA).The results showed that the incidences of AA, AC and CC genotypes of were 0%, 88% and 12% in controls and 2%, 22% and 76% in ASD patients, respectively (P=0.0001). The allele frequencies of A and C in the control group were 40% and 60% and in ASD patients were 12% and 88 %, respectively P=0.0001). A significant change in serum levels of IGF-1 was also found in ASD patients as compared to normal controls. Our results suggest IGF-1 serum levels and polymorphism as potential independent prognostic markers for susceptibility to ASD.

کلیدواژه ها:

Autism ، IGF-1 ، Polymorphism