CXCL8 (IL-8) genetic variation (rs4073) in the patients with ASD in Guilan population

Autism spectrum disorders (ASD) alludes to a deep-rooted condition that typically shows up in early youth, and is described by a gathering of neurodevelopmental conditions portrayed levels of incapacity. Many genes including Neuropilin-2, methionine synthase, SHANK3 and CXCL8 (IL-8) were shown to play a key role in the development of ASD. The location of the IL-8 gene in humans is on chromosome 4. Changes in the serum IL-8 concentration and expression were shown in ASD. The aim of this study was to investigate the relationship of IL-8 gene variation with ASD. A total of 100 autistic children and 120 nonautistic children were included in this study. DNA was extracted from peripheral blood (leukocytes) using the Triton X 100 extraction method. Extracted DNA was confirmed by electrophoresis on 1% agarose gel containing safe stain. For genotyping of the CXCL8 polymorphism (rs4073), polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) method was performed using MfeI. The frequencies of AA, AT and TT in autistic children were 27%, 44%, and 29%, respectively, while in controls were 10%, 44/16% and 45/83, respectively. The allele frequencies of A and T in autistic children were 49% and 51%, and in controls were 32% and 68%, respectively. Statistical analysis showed that there is significant association in CXCL8 (rs4073) gene polymorphism between patients and control groups. AT genotype seems to be the protective factor in our population (P=0.013, OR 0.36, 95% CI (0.167-0.812). Theresults showed that there is a significant association between CXCL8 (IL-8) genetic polymorphism and autism in our population.

Keywords:

CXCL8 , rs4073 , Genetic variation , Autism spectrum disorders