The association of CNTNAP2 rs2710102 and ENGRAILED-2 rs1861972 genes polymorphism and autism in Iranian population

Autism spectrum disorder (ASD) is a highly heritable neurodevelopment disease characterized by impaired social interactions, communication deficits, restricted interests, stereotyped and repetitive behaviors, which results from the interaction between genetic vulnerability and environmental factors. Our study was aimed to explore the association between CNTNAP2 gene polymorphism (rs2710102 C/T) and ENGRAILED-2 (EN2) (rs1861972 A/G) with the risk of autism in the Iranian population. A total of 67 autism cases and 100 controls were recruited. Single nucleotide polymorphism (SNP) rs2710102 C/T was genotyped by utilizing polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and SNP rs1861972 A/G was genotyped by using Tetra-primer ARMS-PCR. The results of this study showed that there is no significant association between rs2710102 CNTNAP2 gene polymorphism and autism, but there is a significant association between rs1861972 EN2 gene polymorphism and autism in the studied population. Consequently, our data provide evidence that the EN2 gene may be implicated in the predisposition to autism in the Iranian population.