Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population

PLoS One. 2015 Nov 13;10(11):e0142887. doi: 10.1371/journal.pone.0142887. eCollection 2015.

Abstract

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders. Recent studies suggested that calcium channel genes might be involved in the genetic etiology of ASD. CACNA1A, encoding an alpha-1 subunit of voltage-gated calcium channel, has been reported to play an important role in neural development. Previous study detected that a single nucleotide polymorphism (SNP) in CACNA1A confers risk to ASD in Central European population. However, the genetic relationship between autism and CACNA1A in Chinese Han population remains unclear. To explore the association of CACNA1A with autism, we performed a family-based association study. First, we carried out a family-based association test between twelve tagged SNPs and autism in 239 trios. To further confirm the association, the sample size was expanded to 553 trios by recruiting 314 additional trios. In a total of 553 trios, we identified association of rs7249246 and rs12609735 with autism though this would not survive after Bonferroni correction. Our findings suggest that CACNA1A might play a role in the etiology of autism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asian People / genetics
  • Autism Spectrum Disorder / ethnology
  • Autism Spectrum Disorder / genetics*
  • Calcium Channels / genetics*
  • Child
  • Child, Preschool
  • China
  • Cohort Studies
  • Female
  • Gene Frequency
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Single Nucleotide*
  • Regression Analysis
  • Risk Factors

Substances

  • CACNA1A protein, human
  • Calcium Channels

Grants and funding

This work was supported by the National Natural Science Foundation of China (81471383, 81471360) (http://www.nsfc.gov.cn/) and the Beijing Municipal Science & Technology Commission (Z131107002213100) (http://mis.bjkw.gov.cn/). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.