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Disease Markers
Volume 2018, Article ID 7862892, 7 pages
Research Article

Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

1Department of Pediatrics, Xiaoshan First People’s Hospital, Hangzhou, Zhejiang 311201, China
2Department of Clinical Laboratory, Zhejiang Xiaoshan Hospital, Hangzhou, Zhejiang 311202, China

Correspondence should be addressed to Sufang Li; moc.qq@694211564 and Jun Liu; moc.361@21276176981

Received 2 June 2017; Revised 18 August 2017; Accepted 19 September 2017; Published 11 January 2018

Academic Editor: Hubertus Himmerich

Copyright © 2018 Zengyu Zhang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Both genetic and environmental factors have been implicated in the etiology of autism spectrum disorder (ASD). This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease. A total of 201 children with ASD and 200 healthy controls from the Han Chinese population were recruited. SNP genotyping was carried out by TaqMan probe-based real-time PCR using genomic DNA extracted from blood cells. Among four examined SNPs, only the CT genotype (odds ratio (OR) = 1.96, 95% confidence interval (CI) = 1.05–3.68, ) and the C allele (OR = 1.88, 95% CI = 1.02–3.46, ) of the rs731276 were significantly associated with increased risks of childhood ASD. None of the SNPs were associated with severity of childhood ASD. Our results reveal that certain polymorphisms in the VDR gene are a risk factor related to childhood ASD in the Han Chinese population.