Association study between genetic variants in vitamin D metabolism related genes and childhood autism spectrum disorder

Metab Brain Dis. 2020 Aug;35(6):971-978. doi: 10.1007/s11011-020-00570-x. Epub 2020 Apr 15.


Vitamin D deficiency has been implicated as a risk factor for autism spectrum disorder (ASD). This case-controlled study was to determine the association between single nucleotide polymorphisms (SNPs) in genes encoding vitamin D metabolism related enzymes and childhood ASD in a Chinese Han population. Both autistic children and age-and gender-matched healthy controls were recruited from September 2012-November 2017. The severity of ASD was evaluated by the childhood autism rating scale (CARS). Taqman probe based real-time PCR was applied to examine genotypes. The association between SNPs and the risk of ASD or the disease severity was examined through the logistic regression. This study recruited 249 children with ASD and 353 healthy controls. The G/A genotype (P = 0.0112) or the G allele (P = 0.0117) of CYP24A1 rs17219315, and the G/A genotype of CYP27B1 rs4646536 (P = 0.0341) were significantly associated with an increased risk of ASD. In addition, multivariate analysis found that A allele of both CYP2R1 rs12794714 (P = 0.0159) and CYP27B1 rs4646536 (P = 0.0268) were significantly associated with the severity of ASD. Genetic polymorphisms in vitamin D metabolism related enzymes are associated with the risk of childhood ASD and the severity of the disease.

Keywords: Autism; CYP27B1 and CYP24A1; CYP2R1; Single nucleotide polymorphism; Vitamin D.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Autism Spectrum Disorder / blood
  • Autism Spectrum Disorder / epidemiology
  • Autism Spectrum Disorder / genetics*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • China / epidemiology
  • Female
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Vitamin D / genetics*
  • Vitamin D / metabolism
  • Vitamin D Deficiency / blood
  • Vitamin D Deficiency / epidemiology
  • Vitamin D Deficiency / genetics*


  • Vitamin D