Abstract:
Background: Autism is a heterogeneous neurodevelopmental disorder. Human homeostatic iron regulator (HFE)
codes for HFE protein. HFE protein is very essential for inhibitory regulation of the endocytosis of iron.
Objective: Present study aims to screen C282Y and H63D polymorphism of the HFE gene in autistic children.
Method: 30 autistic children and 30 healthy age-matched control children were included in the study. TXRF
analysis was performed for quantification of Iron in plasma. Genomic DNA was extracted using peripheral blood
samples and targeted SNPs were screened using Restriction fragment length polymorphism. Genotype, allelic
frequencies and risk ratio were calculated using the statistical method.
Results: TXRF analysis shows a significantly very low concentration of iron in autistic children compared to the
control group [1039.6 ± 28 μg/L vs 2372.2 ± 35 μg/L, p-value 0.001]. Genetic Study shows that all the 30
controls and 28 autistic cases showed homozygote C/C allele. Two heterozygote C/Y alleles and no homozygous
Y/Y allele were observed for C282Y polymorphism for autistic cases. 29 control and 23 autistic cases showed a
homozygote H/H allele. 01 control and 07 autistic cases showed heterozygote H/D allele for H63D poly morphism. C282Y and H63D polymorphisms of HFE gene for heterozygous condition showed non-significant
evidence of risk for causing autism OR = 5.35, 95%CI = 0.25–116.3, P-value-0.29 and OR = 8.8, 95%CI =
1.0–76.9, P-value = 0.05 respectively.
Conclusions: Present study found that C282Y and H63D were not found to be the risk factor for autism in the
targeted study cohort.
