Polymorphisms of (rs7794745) in theCNTNAP2 Gene as Biomarker of Autistic Patients in Thi-Qarprovince/ Iraq
Aim: The role of SNP polymorphism in the CNTNAPA2gene as a possible risk factor for autism is still a topic of much investigation, and research on genes related to autism susceptibility has been rather challenging. Present study aimed to investigate the possible association of CNTNAPA2polymorphism and autism in a Thi-Qar populations.
Methodology: Autistic children were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. 95 children diagnosed as autistic children and 50 age and sex-matched children as control were tested for CNTNAPA2 polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods.
Results: After, DNA was extracted from peripheral blood cells, analyzed the SNPs (rs7794745) in the CNTNAP2 gene of 95 ASD patients and 50 non-autistic individuals by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The results of digestion by restriction enzyme (MICUI) for patients and control samples, showed the frequencies of the AA, AT and TT genotypes of rs7794745 were 25.58%, 60.46% and 13.96% in patients and 38.90%, 44.44% and 16.66% in controls, respectively. Thus, the significant association was observed in genotypes distributions of rs7794745 CNTNAP2 gene polymorphism between autism patients and controls (P≤0.05). The frequencies of A and T allele patients were 55.81%, 44.19% and the control group were 61.11% and 38.89% respectively (P≤0.05). There were no significant differences in allele frequencies between the two groups. This study showed that there is a significant relationship between rs7794745 CNTNAP2 gene polymorphism and autism in Thi-Qarpopulation.
Conclude: This study conclude that CNTNAPA2polymorphisms such as other SNP may be studied to show their possible role in autism.