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Vitamin D receptor gene variants and serum vitamin D in childhood autism spectrum disorder

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Abstract

Objective

This study aimed to examine the correlation between polymorphisms in vitamin D receptor (VDR) gene and serum vitamin D, and to determine their role in predicting childhood Autism Spectrum Disorder (ASD).

Methods

Children with ASD and age- and gender- matched healthy controls were recruited from the Chinese Han population. Their serum 25(OH) vitamin D was measured using competitive chemiluminescent immunoassays. The TaqMan probe approach was applied to analyze the common VDR SNPs rs731236 (Taq1), rs11568820 (Cdx2), rs1544410 (BsmI), and rs228570 (FokI). Both linear and logistic regressions were applied in data analysis.

Results

A total of 269 children with ASD and 320 healthy controls were recruited. Children with ASD had significantly lower levels of serum vitamin D and a significantly higher rate of vitamin D deficiency (< 20 ng/ml) compared to healthy controls (67.7% vs 34.1%). All these examined VDR SNPs were not correlated with serum vitamin D concentrations or vitamin D deficiency. Logistic regression analysis revealed that rs731236 and serum vitamin D were associated with childhood ASD. The area under the receiver operating characteristic (ROC) curve was 0.7285 for serum vitamin D. Children with both T/C genotype of rs731236 and vitamin D deficiency had a higher risk of being diagnosed with ASD.

Conclusion

All examined common VDR SNPs are not correlated with serum vitamin D concentrations or vitamin D deficiency. The combination of T/C phenotype of rs731236 and vitamin D deficiency are associated with a higher risk of childhood ASD. Vitamin D is a promising target in the prevention and treatment of this disease.

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Abbreviations

ASD:

Autism Spectrum Disorder

VDR:

Vitamin D receptor

ROC:

Receiver operating characteristic

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Acknowledgements

This work was supported by grants from Health commission of Zhejiang Province (2019KY151), Science Technology Department of Zhejiang Province (LY18H310009 and LGF19H09004) and Xiaoshan District Science and Technology Bureau of Hangzhou City (2018220).

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The authors have not disclosed any funding.

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Authors and Affiliations

  1. Department of Pediatrics, The First People’s Hospital of Xiaoshan District, Xiaoshan Affiliated Hospital of Wenzhou Medical University, Hangzhou, 311200, China

    Zengyu Zhang

  2. Department of Clinical Laboratory, The Affiliated Xiaoshan Hospital, Hangzhou Normal University, Hangzhou, 311202, China

    Jun Liu

  3. Department of Pharmacy, The Affiliated Xiaoshan Hospital, Hangzhou Normal University, Hangzhou, 311202, Zhejiang, China

    Guojun Jiang

  4. Department of Clinical Psychology, The First People’s Hospital of Xiaoshan District, Xiaoshan Affiliated Hospital of Wenzhou Medical University, Hangzhou, 311200, China

    Hong Yu

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  1. Zengyu Zhang
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  4. Hong Yu
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Contributions

JL and ZZ attributed to conception and design. Material preparation, data collection and analysis were performed by ZZ, GJ, HY and JL. The first draft of the manuscript was written by JL and all authors commented on previous versions of the manuscript. All authors have read and approved the final manuscript.

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Correspondence to Jun Liu.

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The authors have declared no conflicts of interests with respect to the research, authorship, and/or publication of this article.

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This study was approved by the Medical Ethics Committee of Zhejiang Xiaoshan Hospital.

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Written informed consent was obtained from the parents.

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Zhang, Z., Liu, J., Jiang, G. et al. Vitamin D receptor gene variants and serum vitamin D in childhood autism spectrum disorder. Mol Biol Rep 49, 9481–9488 (2022). https://doi.org/10.1007/s11033-022-07829-9

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