Significance of 5,10-methylenetetrahydrofolate reductase gene variants in acute lymphoblastic leukemia in Indian population: an experimental, computational and meta-analysis

Bellampalli, Ravishankara and Phani, Nagaraja M. and Bhat, Kamalakshi G. and *, Krishna Prasad and *, Nalini Bhaskaranand and *, Kanive P. Guruprasad and Rai, Padmalatha S and Satyamoorthy, K (2014) Significance of 5,10-methylenetetrahydrofolate reductase gene variants in acute lymphoblastic leukemia in Indian population: an experimental, computational and meta-analysis. Leukemia & Lymphoma. pp. 1-10. ISSN 1042-8194 print / 1029-2403 online

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Abstract

Acute lymphoblastic leukemia (ALL) arises due to several genetic alterations in progenitor cells, and methotrexate is frequently used as part of the treatment regimen. Although there is evidence for an eff ect of 5,10-methylenetetrahydrofolate reductase gene ( MTHFR ) C677T and A1298C variations on drug response in ALL, its risk association for ALL is still unresolved. In a case – control study of 203 patients with ALL and 246 controls and meta-analysis in the Indian population, we showed an insignifi cant association of MTHFR C677T and A1298C genotypes with childhood and adult ALL. Comprehensive in silico characterization of nonsynonymous single nucleotide polymorphisms (nsSNPs) and SNPs of the 3 ’ untranslated region (UTR) revealed nine nsSNPs as deleterious, and three SNPs in the 3 ’ UTR could possibly alter the binding of miRNAs. The study revealed that several overlooked SNPs may contribute to the risk of ALL susceptibility and further studies of these SNPs with functional characterization in a large sample size are required to understand the signifi cant role of MTHFR in ALL development.

Item Type: Article
Uncontrolled Keywords: MTHFR gene polymorphism , acute lymphoblastic leukemia , meta-analysis , Indian population , in silico analysis
Subjects: Medicine > KMC Mangalore > Paediatrics
Medicine > KMC Mangalore > Medicine
Depositing User: KMCMLR User
Date Deposited: 31 Dec 2014 07:26
Last Modified: 07 Nov 2016 10:53
URI: http://eprints.manipal.edu/id/eprint/141407

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