RETRACTED ARTICLE: Association of Vitamin D Receptor Gene Polymorphisms (rs731236 and rs7975232) among Iraqi Children with Autism Spectrum Disorder

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.

Keywords: Autism spectrum disorder; Vitamin D receptor gene; Gene polymorphisms

Retraction Note

24 Sept 2025: The Editor-in-Chief has retracted this article due to the below mentioned scientific deficiencies revealed by an internal audit.

1. The most serious issue is the timeline of the ethical approval. The methods state the study on children was conducted between May 2022 and March 2023, but the ethical approval was only granted on December 27, 2023—after the study was completed and just four days before publication. Conducting research on human subjects, especially a vulnerable population like children, without prior ethical approval is a grave violation of fundamental research principles (including the Declaration of Helsinki). This ethical failure alone is sufficient grounds for immediate retraction.

2. The core of this genetic association study—the allele frequency analysis—is based on mathematically impossible calculations. The allele counts presented in Tables 4 and 5 do not and cannot derive from the genotype counts presented in Tables 2 and 3. This is not a minor rounding error but a complete failure of data analysis, which renders the p-values, odds ratios, and all conclusions about allele association scientifically invalid.

3.The methods state that blood samples were stored at room temperature (20-25°C). This is an improper preservation technique for genomic DNA, which can lead to degradation and potentially inaccurate genotyping. This methodological flaw casts doubt on the reliability of the very foundation of the study's data.

The authors have not responded to correspondence regarding this retraction.