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Updated: Dec 31, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The Correlation Between Vitamin D Receptor (VDR) Gene Polymorphisms and Autism: A Meta-analysis
Hongchang Yang1,2, Xueping Wu3,4
1School of Physical Education and Training, Shanghai University of Sport, Shanghai, 200438, China.
Abstract:
Vitamin D receptor (VDR) polymorphisms are risk factors for autism. We performed a systematic meta-analysis to explore the relationship between VDR gene polymorphisms and autism. A literature review of articles from Pubmed, Embase, the Cochrane Library, and Springer was conducted up to January 28, 2019. The association between SNPs and autism was calculated using pooled odd ratios (ORs) and 95% confidence intervals (CIs). Additionally, tests for heterogeneity, publication bias, and sensitivity were conducted. Six eligible studies with a total of 2001 participants (1045 cases and 956 controls) were included. Meta-analysis indicated that the "C" allele of the rs731236 gene, including C vs. T (OR = 1.3254, 95% CI = 1.0897-1.6122), CC vs. TT (OR = 2.0871, 95% CI = 1.3395-3.2519), and CC vs. TT + CT (OR = 1.9610, 95% CI = 1.2985-2.9615), might be a risk factor for autism. Moreover, the "G" allele of rs7975232 (G vs. T: OR = 0.8228, 95% CI = 0.6814-0.9934) was associated with a protective effect against the development of autism. No significant differences were found in the allele frequencies of rs11568820, rs1544410, and rs2228570 in the cases and controls. This meta-analysis revealed that both VDR rs731236 and rs7975232 were significantly associated with autism, whereas VDR rs11568820, rs1544410, and rs2228570 might not be correlated with the incidence of autism.
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