A study of single nucleotide polymorphisms in CD157, AIM2 and JARID2 genes in Han Chinese children with autism spectrum disorder

Abstract

Purpose: Autism spectrum disorder (ASD) is a group of developmental brain disorders caused by genetic and environmental factors. The objective of this study was to investigate whether single nucleotide polymorphisms (SNPs) in genes related to immune function were associated with ASD in Chinese Han children.

Materials and methods: A total of 201 children with ASD and 200 age- and gender-matched healthy controls were recruited from September 2012 to June 2106. A TaqMan probe-based approach was used to genotype SNPs corresponding to rs28532698 and rs4301112 in CD157, rs855867 in AIM2, and rs2237126 in JARID2. Case-control and case-only studies were performed to determine the contribution of SNPs to the predisposition of disease and its severity, respectively.

Results: Our results revealed that the genotypes and allele frequencies of these SNPs were not significantly associated with childhood ASD and its severity in this population.

Conclusions: Results of our study suggest that these SNPs are not predictors of childhood ASD in the Chinese Han population. The discrepant results suggest the predictor roles of SNPs have to be determined in different ethnic populations due to genetic heterogeneity of ASD.

Keywords:

• Autism spectrum disorder (ASD)
• single nucleotide polymorphisms (SNPs)
• CD157
• AIM2
• JARID2

Disclosure statement

The authors have declared no conflicts of interests with respect to the research, authorship, and/or publication of this article.

Ethical approval

This study was approved by the Medical Ethics Committee of Zhejiang Xiaoshan Hospital.

Additional information

Funding

This work was supported by grants from the Health and Family Planning Commission of Zhejiang Province (2014KYB225); Science and Technology Commission of Hangzhou City (20140633B48); Science Technology Department of Zhejiang Province (2017C33205), Hangzhou Municipal of Science and Technology Commission (20163501Y82); Health and Family Planning Commission of Hangzhou (2016B26).