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A polymorphism in the chromosome 9p21 ANRIL locus is associated to Philadelphia positive acute lymphoblastic leukemia

Ilaria Iacobucci1, Marco Sazzini, Paolo Garagnani

  • 1Department of Hematology and Oncologic Sciences L. and A. Seràgnoli, University of Bologna, Bologna, Italy.

Leukemia Research
|March 19, 2011
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in the CDKN2A/B gene region are linked to leukemia. A specific SNP (rs564398) in the ANRIL gene shows a significant association with acute lymphoblastic leukemia (ALL) susceptibility.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Alterations in cyclin-dependent kinase inhibitors (p15INK4B, p16INK4A) and MDM2 inhibitor (p14ARF) are implicated in cancer.
  • The role of single nucleotide polymorphisms (SNPs) within the CDKN2A/B genes and adjacent regions in leukemia development is largely unknown.

Purpose of the Study:

  • To investigate the association between common DNA sequence variants in the CDKN2A/B gene region and leukemia susceptibility.
  • To identify specific SNPs that may contribute to the risk of developing leukemia, particularly acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).

Main Methods:

  • A case-control association study was conducted.
  • Genotyping of 23 SNPs across the MTAP, CDKN2A/B, and CDKN2BAS loci was performed in 149 leukemia patients and 183 healthy controls.
  • Statistical analysis was used to identify significant correlations between SNPs and leukemia phenotypes.

Main Results:

  • A statistically significant correlation was observed between SNP rs564398, located in the CDKN2BAS locus encoding ANRIL antisense non-coding RNA, and the ALL phenotype.
  • This association followed an overdominant model of disease susceptibility, with an odds ratio (OR) of 2 (95% CI, 1.20-3.33; p=7.1×10(-3)).

Conclusions:

  • The findings suggest that specific polymorphisms in the ANRIL gene may influence its transcription.
  • These transcriptional changes could lead to altered expression of CDKN2A/B, potentially promoting abnormal cell proliferation and increasing susceptibility to ALL.

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