The Impact of p.H63D and p.C282Y Polymorphisms Associated with Iron Status on Autism in Iraqi Children

Background: Autism is a neurodegenerative disease associated with alterations in the metabolism of iron in the central nervous system. There is evidence that children with autism have distinct iron-related proteins in their serum, and the SNPs p.H63D and p.C282Y have been found to be significantly correlated with a number of neurological illnesses. Objectives: To determine the impact of p.H63D and p.C282Y polymorphisms associated with iron status on autism in Iraqi children. Patients and Methods: The study was conducted from June 2023 to January 2024, involving 30 individuals with autism and 30 controls, with ages ranging from 4 to14 years. After extracting the DNA, specific sequence amplification and restriction enzymes digestion were used to investigate the genotyping of p.H63D and p.C282Y as well as TIBC, iron, transferrin, and ferritin, which were measured using an autoanalyzer. Results: Our findings showed the mean serum iron(70.68±20.21µg/dL),ferritin(32.11±9.15µg/dL) and transferrin (13.59±1.45(g/L))levels of autistic children were significantly lower than the mean of the control group(90.22±22.11,79.9±20.65,25.75± 3.69 respectively) p-value<0.05, and that an elevated risk of autism in the presence of homozygous H/H(83.3%)at p.H63D and C/C (100%) homozygote of p.C282Y, and the polymorphisms was substantially correlated with decreased serum transferrin levels (odd ratio =1.20 ,p-value=0.01(with H/H),1.18 ,p-value=0.02 with C/C). Conclusion: The decreased serum transferrin levels were associated with a higher incidence of autism that is associated with the presence of p.H63D and p.C282Y polymorphisms. Low levels of iron, ferritin, and transferrin in autism patients can lead to cognitive and physical problems, which may increase the risk of developing autism symptoms. Keywords: p.H63D, p.C282Y, Transferrin, Ferritin, Iron.