پلي مورفيسم هاي آنزيم متيلن تتراهيدروفولات ردوكتاز و لوسمي حاد لنفوبلاستيك كودكان

Methylenetetrahydrofolate reductase polymorphisms and susceptibility to childhood ALL

Background and Objectives Genetic variations and mutations are of the etiological factors leading to leukemia. Among these genetic alterations, polymorphisms are present on gene surfaces of some critical molecules. The aim of this study was to assess individual and/or combined role of these two polymorphisms (C677T and A1298C) in resistance against pediatric acute lymphoblastic leukemia. Moreover, the frequency rate of these important polymorphisms has not been reported in Iran so far and the present study is the first attempt to this end. Materials and Methods Using PCR and RFLP analyses, we studied the prevalence rate of the C677T and A1298C Methylenetetrahydrofolate (MTHFR) genotypes in 103 pediatric ALL patients and 160 age-sex matched control patients. The data were analyzed with Hardy-Weinberg and Chi-square by SPSS 16. Results No significant association between two common polymorphisms of MTHFR or combination of polymorphisms with the risk of ALL was observed. The study also showed the high prevalence of A1298C which was significantly higher than that reported for most Asian population (40.67% in our study versus 17-19% in Asian). It is proved that C677T prevalence pattern is similar with those in most Asian populations. Conclusion Our findings suggest that the MTHFR C677T and A1298C gene variants do not have a major influence on the susceptibility to pediatric ALL. But despite the absence of any significant association, the frequency of MTHFR 677TT was lower among patients than general population which may support previous evidence about its protective effect against ALL.