title: MTHFR Gene Polymorphisms and the Risk of Acute Lymphoblastic Leukemia in Adults and Children: A Case Control Study in India.
abstract: Genetic polymorphisms in the methylene tetrahydrofolate reductase (MTHFR) gene have been associated with the development of acute leukemias and various malignancies. The role of MTHFR polymorphism in the development of pediatric acute lymphoblastic leukemia (ALL) has been extensively studied among north Indians in various settings, yet its association with acute leukemias remains unresolved. To evaluate the relationship between functional MTHFR polymorphisms, C677T and A1298C and possible effect on risk of ALL in adults and children in North Indian population by comparing them with healthy controls. DNA was isolated from peripheral blood of 184 ALL patients (33 adults, 151 children) and 155 controls and analyzed by a PCR-restriction fragment length polymorphism assay. The frequency of MTHFR 677CT and 1298 AC genotypes were significantly lower among adult ALL cases when compared to the controls. We found a 1.74-fold reduced risk of ALL in individuals with 1298AC polymorphic variant and a 9.17-fold decreased risk of adult ALL. However, no statistically significant difference was evident between the above polymorphisms and susceptibility to ALL in children. Polymorphisms in the MTHFR gene possibly modulate risk of ALL in north Indian adults but not in children, although larger studies are needed.
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.
authors.forename: Sudha
authors.initials: S
authors.lastname: Sazawal
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Chaubey
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.
authors.forename: Pawandeep
authors.initials: P
authors.lastname: Kaur
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.
authors.forename: Sunita
authors.initials: S
authors.lastname: Chikkara
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.
authors.forename: Bijender
authors.initials: B
authors.lastname: Kumar
authors.affiliation: Department of Medical Oncology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sameer
authors.initials: S
authors.lastname: Bakshi
authors.affiliation: Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: L S
authors.initials: LS
authors.lastname: Arya
authors.affiliation: Department of Medical Oncology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Vinod
authors.initials: V
authors.lastname: Raina
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.
authors.forename: Alakananda
authors.initials: A
authors.lastname: Das Gupta
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, 110029 India.
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
keywords: Acute lymphoblastic leukemia; Folate metabolism; MHTFR polymorphisms; North India