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

Abstract EN

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, P=0.0351) and the C allele (OR = 1.88, 95% CI = 1.02–3.46, P=0.0416) 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.