Document Detail

Polymorphisms involved in folate metabolism pathways and the risk of the development of childhood acute leukemia.
MedLine Citation:
PMID:  23336575     Owner:  NLM     Status:  In-Data-Review    
Objective: Polymorphisms that reduce the activity of reduced folate carrier (RFC) and methylenetetrahydrofolate reductase (MTHFR) and double (2R2R) or triple (3R3R) 28-bp tandem repeats in the promoter region of thymidylate synthase (TS) have been associated with the risk of childhood acute leukemia (AL). A case-control genotyping study was conducted in Brazilian children with the aim of investigating RFC, MTHFR, and TS polymorphisms as risk factors. Methods: The polymerase chain reaction-restriction fragment length polymorphism method was employed in 177 AL cases and 390 controls. Results: The presence of the mutant 1298C, also RFC 80A, was linked to a decreased risk of developing acute lymphoid leukemia (ALL) (odds ratio (OR)=0.46, 95% confidence interval (CI)=0.30-071 and OR=0.51, 95% CI=0.28-0.0.93, respectively). Conclusions: The genotype 677 CT was associated with increased risk of developing ALL (OR=1.6, 95% CI=1.1-2.7). Further epidemiological study is needed to unravel the role of complex multiple gene-environment interactions in leukemogenesis.
Rafaela Maria Seabra Silva; Alide Caroline Lima Fontes; Karina Alves Silva; Thalita Araújo Sant'ana; Flávio José da Costa Ramos; Terezinha de Jesus Marques-Salles; Maria S Pombo-de-Oliveira; Maria Tereza Cartaxo Muniz
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic testing and molecular biomarkers     Volume:  17     ISSN:  1945-0257     ISO Abbreviation:  Genet Test Mol Biomarkers     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101494210     Medline TA:  Genet Test Mol Biomarkers     Country:  United States    
Other Details:
Languages:  eng     Pagination:  147-52     Citation Subset:  IM    
1 Departamento de Genética, Universidade Federal de Pernambuco , Recife, Brazil .
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