Impact of thymidylate synthase promoter and DNA repair gene polymorphisms on susceptibility to childhood acute lymphoblastic leukemia

The aim of this study was to evaluate the frequency of polymorphisms in the TYMS, XRCC1, and ERCC2 DNA repair genes in pediatric patients with acute lymphoblastic leukemia using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP) approaches. The study was conducte...

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Bibliographic Details
Published in:Leukemia & lymphoma 2011-06, Vol.52 (6), p.1118-1126
Main Authors: Canalle, Renata, Silveira, Vanessa S., Alberto Scrideli, Carlos, Queiroz, Rosane G. P., Fernando Lopes, Luiz, Gonzaga Tone, Luiz
Format: Article
Language:English
Subjects:
Adolescent
Brazil
Child
Child, Preschool
childhood ALL
DNA Repair - genetics
DNA-Binding Proteins - genetics
ERCC2
Female
Gene Frequency
Genetic polymorphisms
Genotype
Humans
Infant
Male
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology
Promoter Regions, Genetic - genetics
susceptibility
Thymidylate Synthase - genetics
TYMS
X-ray Repair Cross Complementing Protein 1
Xeroderma Pigmentosum Group D Protein - genetics
XRCC1
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Summary:The aim of this study was to evaluate the frequency of polymorphisms in the TYMS, XRCC1, and ERCC2 DNA repair genes in pediatric patients with acute lymphoblastic leukemia using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP) approaches. The study was conducted in 206 patients and 364 controls from a Brazilian population. No significant differences were observed among the analyzed groups regarding XRCC1 codon 399 and codon 194 and ERCC2 codon 751 and codon 312 polymorphisms. The TYMS 3R variant allele was significantly associated with a reduced risk of childhood ALL, represented by the sum of heterozygous and polymorphic homozygous genotypes (odds ratio 0.60; 95% confidence interval 0.37-0.99). The results suggest that polymorphism in TYMS may play a protective role against the development of childhood ALL.
ISSN:1042-8194
1029-2403
DOI:10.3109/10428194.2011.559672