Association between the rs8028440 polymorphism of CYFIP 1 gene in autism patients

Abstract

Demonstrated no association between ASD and rs8028440 polymorphism of the CYFIP1 gene, which needs further studies in a larger population of ASD subjects to find the contribution of rs8028440 polymorphism in CYFIP1 gene with ASD in Iranian patients. Introduction: Given the importance of the Cytoplasmic FMR1 Interacting Protein 1 (CYFIP1 gene) in relation to neurodevelopmental abnormalities such as autism spectrum disorder (ASD), recognizing the interaction between single nucleotide polymorphisms (SNPs) of this gene in autism cases is important. In this study, we evaluated the probable association of rs8028440 polymorphism of the CYFIP1 gene with ASD disorder in Iranian subjects. Methods and patients: The CYFIP1 gene were amplified with specific primers and the PCR products were digested with RsaI restriction enzyme to obtain the rs8028440 polymorphism in 100 ASD patients and 100 healthy control cases. Finally, the samples were genotyped using direct sequencing to identify CC, CT, and TT genotypes. Results: The Hardy-Weinberg equilibrium showed no significant deviation in the subjected population. According to our results, the frequency of the C allele was higher in ASD groups than in the control group. The full length of PCR was 662 bp and through RFLP‐PCR, normal genotype (C/C), heterozygote genotype (T/C), and homozygous genotype (T/T) was detected. Ten PCR products were sequenced and the corresponded alleles A/T and Y (C or T) were determined. It was revealed no significant difference was found between ASD subjects and controls with respect to the frequency of the rs8028440 gene allele.