Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures

PLoS One. 2014 Oct 13;9(10):e110255. doi: 10.1371/journal.pone.0110255. eCollection 2014.

Abstract

Genome wide association studies (GWAS) have established association of ARID5B and IKZF1 variants with childhood acute lymphoblastic leukemia (ALL). Epidemiological studies suggest that environmental factors alone appear to make a relatively minor contribution to disease risk. The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology. This study presents results from an Australian GWAS of childhood ALL cases (n = 358) and population controls (n = 1192). Furthermore, we utilised family trio (n = 204) genotypes to extend our investigation to gene-environment interaction of significant loci with parental exposures before conception, and child's sex and age. Thirteen SNPs achieved genome wide significance in the population based case/control analysis; ten annotated to ARID5B and three to IKZF1. The most significant SNPs in these regions were ARID5B rs4245595 (OR 1.63, CI 1.38-1.93, P = 2.13×10(-9)), and IKZF1 rs1110701 (OR 1.69, CI 1.42-2.02, p = 7.26×10(-9)). There was evidence of gene-environment interaction for risk genotype at IKZF1, whereby an apparently stronger genetic effect was observed if the mother took folic acid or if the father did not smoke prior to pregnancy (respective interaction P-values: 0.04, 0.05). There were no interactions of risk genotypes with age or sex (P-values >0.2). Our results evidence that interaction of genetic variants and environmental exposures may further alter risk of childhood ALL however, investigation in a larger population is required. If interaction of folic acid supplementation and IKZF1 variants holds, it may be useful to quantify folate levels prior to initiating use of folic acid supplements.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • DNA-Binding Proteins / genetics*
  • Environmental Exposure*
  • Female
  • Gene-Environment Interaction*
  • Genome-Wide Association Study
  • Humans
  • Ikaros Transcription Factor / genetics*
  • Male
  • Parents*
  • Polymorphism, Single Nucleotide / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Reproducibility of Results
  • Transcription Factors / genetics*

Substances

  • ARID5B protein, human
  • DNA-Binding Proteins
  • IKZF1 protein, human
  • Transcription Factors
  • Ikaros Transcription Factor

Grants and funding

The collection of samples and data from the patients with childhood ALL was funded by the National Health and Medical Research Council of Australia (https://www.rgms.nhmrc.gov.au) Grant number APP254534. Genotyping was funded by the Hunter Medical Research Institute - the Lawrie Bequest Paediatric Oncology Grant, and the Hunter Children’s Research Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.