INF-γ Plasma Level and Polymorphism Significance in Autastic Spectrum Disorder, A Controlled Study in Basrah

Abstract

ASD are particularly heterogeneous developmental conditions. Many arguments clarified a central function for dysregulation of immune system in ASD and many ASD hazard genes encode the immune system elements along with other risk factors. There is also evidence of continuing dysregulation of immune system in people with ASD and in animal models of this condition. Objectives: This study was performed to investigate the relationship between the IFN-γ + 874 gene polymorphism and INF - γ plasma level with susceptibility to ASD Methods: Polymorphism detection analysis was performed on 194 subjects from Basra south Iraq. 94 patients with ASD, (78 (83%) males and 16 (17%) females), their age ranging from 2 to 13 years, and 100 children apparently healthy control group matching for the same age and sex The IFN-γ gene polymorphism (+874A/T) was genotyped through a specific sequence primer polymerase chain reaction (SSP-PCR). For all participant the plasma level of INF-γ was determined by ELISA KIT (Elabscience, USA, Catalog No: E-EL-H0108), followed the manufacturer instructions Results: showed sufficient differences in the plasma concentration of INF between children with autism and the none group: 24.87 pg/mm2 18.86 pg/ mm respectively, with significant increase in plasma concentration of IFN of male and female of autistic group as compare to control group. Results of iterative distribution of INF-γ+874 gene polymorphism showed heterogeneous results between autistic group and control group, as the T allele was scored in autistic group 23.4% in compared with A allele which scored 79.7%, while in control group the T allele was scored 67% in compared with A allele which was scored 85%. AA genotypes of IFN-γ+874 showed higher recurrence among autistic group in compared to control group,(76.5% vs 33% respectively), while TA genotypes of IFN-γ+874 showed lower recurrence in autistic group when compared to control group,(3.2% vs 52% respectively),and IFN-γ+874 TT genotypes scored 20.2% in autistic patients and 15% was scored in control group ASD susceptibility is associated with the T allele of +874 rs2430561 with increase plasma level of IFN-γ which may have role in the severity of behavioural changes.