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MTHFR Gene Polymorphisms and the Risk of Acute Lymphoblastic Leukemia in Adults and Children: A Case Control Study in

Sudha Sazawal1, Rekha Chaubey1, Pawandeep Kaur1

  • 1Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
|December 2, 2014
PubMed

Insights

MTHFR gene variants may influence adult acute lymphoblastic leukemia (ALL) risk in North India, showing a decreased risk for certain genotypes. However, this association was not observed in children with ALL.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms are linked to various cancers.
  • Previous studies on MTHFR and pediatric acute lymphoblastic leukemia (ALL) in North India have yielded inconclusive results.

Purpose of the Study:

  • To investigate the association between functional MTHFR polymorphisms (C677T and A1298C) and the risk of ALL in North Indian adults and children.
  • To compare the frequencies of these MTHFR genotypes in ALL patients with those in healthy controls.

Main Methods:

  • DNA was extracted from peripheral blood samples of 184 ALL patients (33 adults, 151 children) and 155 healthy controls.
  • Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assay was employed to analyze MTHFR C677T and A1298C genotypes.

Main Results:

  • Significantly lower frequencies of MTHFR 677CT and 1298AC genotypes were observed in adult ALL cases compared to controls.
  • A 1.74-fold reduced risk of ALL was associated with the MTHFR 1298AC polymorphic variant, and a 9.17-fold decreased risk was found for adult ALL.
  • No statistically significant association was found between these MTHFR polymorphisms and susceptibility to ALL in children.

Conclusions:

  • MTHFR gene polymorphisms may play a role in modulating the risk of ALL in the North Indian adult population.
  • The studied MTHFR polymorphisms do not appear to significantly affect the susceptibility to ALL in North Indian children.
  • Further extensive research with larger cohorts is recommended to confirm these findings.
Keywords:
Acute lymphoblastic leukemiaFolate metabolismMHTFR polymorphismsNorth India

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