Single locus and haplotypic impacts of GRIN۲B gene with autism spectrum and its demographic and clinical features in Guilan province.

Background and Aim: Autism spectrum disorder is a generalized developmental disorder that begins before the age of ۳۶ months. Genetic and environmental causes may contribute to this multifactorial disorder.Polymorphisms in GRIN۲B (N-methyl-D-aspartate receptor subunit coding)are associated with changes in brain structure. GRIN۲B has been independently proven to be associated with behavioral and cognitive impairment associated with this disorder in childhood.This study for first time was carried out in samples of Guilan province to explore the key role of GRIN۲B gene polymorphisms and their haplotypes containing with risk of autism spectrum and its demographic and clinical features Methods: To accomplish this, we genotyped the rs۱۰۱۹۳۸۵, rs ۱۰۲۴۸۹۳ and rs۳۷۶۴۰۲۸ of GRIN۲B polymorphisms for association analysis in ۶۲ autictic individuals and ۱۰۲ healthy subjects using ARMS-PCR method..To assess demographic and clinical characteristics, a checklist developed by a psychologist as well as the Graham Garz Questionnaire was used. All statistical analysis were performanced by SsnAlyze ver.۸ and SPSS. ver.۱۸ programs Results: There were a significant difference in genotype frequencys of rs۳۷۶۴۰۲۸ and rs۱۰۱۹۳۸۵ polymorphism between control and patient groups (p = ۰.۰۲۶۹ and ۰.۰۴۹۳ respectively). Eight haplotype models with frequencies> ۰.۵ were observed, none of which showed significant differences in allelic frequency between autistic and control groups. Based on checklist and Graham Garz Questionnaire scores, individuals carrying the allele risky of rs۳۷۶۴۰۲۸ variant, most often carry the symptoms of autism in recessive genetic model..(P = ۰.۰۲۷.df = ۲.x۲ = ۷.۲۳). Also, autistic people have showed low stereotypical behavior with increasing educational level in regarding variant. (p = ۰.۰۱۹.r = ۰.۳۶).Conclusion: In conclusion the variants of Grin۲b GENE might have a key rule in occurrence of autism spectrum and its demographic and clinical features in Guilan province.

کلیدواژه ها:

Autism spectrum disorder ، GRIN۲B ، polymorphism ، demographic and clinical features