Abstract

PurposeAutism spectrum disorder (ASD) is a genetically complicated neuropsychiatric developmental disorder. As the pathogenesis of ASD is not clear till now, we have carried out the present case-control study to validate the association of GRIK1 rs363598 and intergenic rs360932 polymorphisms with ASD in the Bangladeshi children. Methods and materialsWe used Tetra-primer Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) to study 98 ASD children and 112 healthy volunteers from different institutes of Bangladesh. ResultsThe mean CARS score of the ASD children was 41.84 ± 9.28. The rs363598 SNP pretended a significantly higher risk for the progression of ASD with children carrying CC genotype, dominant and recessive models (OR = 4.34, p = .015; OR = 2.07, p = .015 and OR = 3.77, p = .026, respectively). Children with C allele (minor) significantly (p = .002) revealed 2.17 times elevated risk of autism compared to T allele. Again, intergenic rs360932 SNP presented a significantly elevated risk for the development of ASD with AA genotype, dominant and recessive models (OR = 2.34, p = .009; OR = 1.88, p = .026 and OR = 2.25, p = .009, respectively). Children with A allele (minor) had 2.00 times more risk compared to wild allele (p < .05). No significant association was found with heterozygous and overdominant models for both SNPs. ConclusionsThis study concludes that both rs363598 and rs360932 are significantly associated with the risk of ASD in Bangladeshi children. We believe that this case-control study will provide more opportunities to work on these SNPs on a large scale as well as other genes associated with ASD in future investigations.

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