Single Locus and Haplotypic Impacts of Grin2b 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 36 months. genetic and environmental causes may contribute to this multifactorial disorder.polymorphisms in grin2b (n-methyl-d-aspartate receptor subunit coding) are associated with changes in brain structure. grin2b 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 grin2b gene polymorphisms and their haplotypes containing with risk of autism spectrum and its demographic and clinical featuresmethods: to accomplish this, we genotyped the rs1019385, rs 1024893 and rs3764028 of grin2b polymorphisms for association analysis in 62 autictic individuals and 102 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.8 and spss. ver.18 programsresults: there were a significant difference in genotype frequencys of rs3764028 and rs1019385 polymorphism between control and patient groups (p = 0.0269 and 0.0493 respectively). eight haplotype models with frequencies> 0.5 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 rs3764028 variant, most often carry the symptoms of autism in recessive genetic model..(p = 0.027.df = 2.x2 = 7.23). also, autistic people have showed low stereotypical behavior with increasing educational level in regarding variant. (p = 0.019.r = 0.36).conclusion: in conclusion the variants of grin2b gene might have a key rule in occurrence of autism spectrum and its demographic and clinical features in guilan province.