Association of Vitamin D Receptor Gene Polymorphisms (rs731236 and rs7975232) among Iraqi Children with Autism Spectrum Disorder

Riyam Abbas Kadhim, Rayah Salman Baban, Areej Abdul Abass Al- Omrani

Abstract


Background: Vitamin D receptor gene (VDR) is implicated in several aspects of human psychiatric disorders, one of them is autism spectrum disorder. Autism spectrum disorder is neurodevelopment disorder characterized by some degree of difficulty with social interaction and communication. The etiology of this disease has been linked to both hereditary and environmental factors. The aim of this study is to determine the association of single-nucleotide polymorphisms(rs731236and rs7975232) in VDR gene with susceptibility of ASD childhood .

Method: A total of 44 children with ASD and 44 controls from Iraqi children were chose, with age of 2 – 11 years old. This study took place  between May 2022 and March 2023.Single­-Nucleotide Polymorphism SNP genotyping was carried out by Sanger sequencing using (genomic DNA extracted) from blood cells. The number of samples were too low due to the difficulty of drawing blood from a vein due to the child’s hyperactivity.

Result: Among two examined SNPs, the AG category of rs731236 demonstrated a significant effect, B = 1.54, OR = 4.68, p = 0.002. This finding suggests that the presence of the AG category of rs731236 increases the odds of observing the Patient category within the Group by approximately 368.24%, in comparison to the AA category of rs731236. In contrast, the GG category of rs731236 did not exhibit a significant effect, B = 0.97, OR = 2.63, p = 0.515, indicating no considerable impact on the likelihood of observing the Patient category within the Group. Furthermore, the AA category of rs7975232 revealed no significant effect, B = -0.37, OR = 0.69, p = 0.489, suggesting that it did not notably influence the odds of observing the patient category within the Group. Similarly, the CC category of rs7975232 had no significant, B = 0.71, OR = 2.03, p = 0.294.The findings of this study, support the hypothesis that rs731236 implicated in the pathophysiology of autism.

Conclusion: The combination of AG genotype of rs731236 is associated with a higher risk of ASD childhood and it is considered a promising target in the diagnosis of this disease.


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References


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DOI: http://dx.doi.org/10.62940/als.v10i4.2266

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