TF and TCF4 gene polymorphisms are linked to autism spectrum disorder: a case-control study

J Int Med Res. 2022 Nov;50(11):3000605221138492. doi: 10.1177/03000605221138492.

Abstract

Objective: Although the prevalence of autism spectrum disorder (ASD) is increasing, appropriate diagnosis and prevention strategies are still lacking. This case-control study was designed to explore the association between ASD and the rs1867503 and rs9951150 polymorphisms of the TF and TCF4 genes, respectively.

Methods: Ninety-six children with ASD and 118 healthy children were recruited and polymerase chain reaction-restriction fragment length polymorphism technique was applied for genotyping.

Results: The frequencies of the mutant allele G were 48% and 44% for the rs1867503 and rs9951150 polymorphisms, respectively. In our analysis, both TF and TCF4 polymorphisms were associated with an increased risk of developing ASD. AG heterozygotes (OR = 3.18), GG mutant homozygotes (OR = 2.62), AG + GG combined genotypes (OR = 2.98), and G mutant alleles of TF rs1867503 (OR = 1.94) were associated with a significantly elevated risk of ASD. Likewise, AG heterozygotes (OR = 2.92), GG mutant homozygotes (OR = 2.36), AG + GG combined genotypes (OR = 2.72), and G minor alleles of TCF4 rs9951150 (OR = 1.92) were associated with a significantly elevated risk of ASD.

Conclusions: Our results indicate that TF rs1867503 and TCF4 rs9951150 polymorphisms may be strongly associated with the development of ASD in Bangladeshi children.

Keywords: Autism spectrum disorder; TCF4 rs9951150; TF rs1867503; genetic polymorphism; mutant allele G; polymerase chain reaction; restriction fragment length polymorphism.

MeSH terms

  • Alleles
  • Autism Spectrum Disorder* / diagnosis
  • Autism Spectrum Disorder* / genetics
  • Case-Control Studies
  • Child
  • Genotype
  • Humans
  • Polymorphism, Genetic
  • Transcription Factor 4 / genetics

Substances

  • TCF4 protein, human
  • Transcription Factor 4