Abstract
Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations. Some of them are known, but their functional roles still requireinvestigation. Age is a recognized risk factor; children with disease onset after the age of ten have worse prognosis, presumably also triggered by inherited factors. The MDR1 gene polymorphisms rs1045642, rs2032582 and MTHFR gene polymorphisms rs1801131 and rs1801133 were genotyped in 68 ALL patients in remission and 102 age and gender matched controls; parental DNA samples were also available for 42 probands. No case control association was found between analyzed polymorphisms and a risk of childhood ALL development. Linkage disequilibrium was not observed in a family-based association study either. Only marginal association was observed between genetic marker rs2032582A and later disease onset (p=0.04). Our data suggest that late age of ALL onset could be triggered by mild effect common alleles.
Highlights
Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood (Tharnprisan et al, 2013)
Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations
Materials and Methods: The MDR1 gene polymorphisms rs1045642, rs2032582 and methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms rs1801131 and rs1801133 were genotyped in 68 ALL patients in remission and 102 age and gender matched controls; parental DNA samples were available for 42 probands
Summary
Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood (Tharnprisan et al, 2013). There are some studies where single nucleotide polymorphisms have been studied as possible risk factors associated with the later age of onset. Gorniak et al reported association between age of onset and polymorphism rs4132601 in the gene IKZF1 in a group of 508 Polish patients (Gorniak et al, 2014). Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations. Age is a recognized risk factor; children with disease onset after the age of ten have worse prognosis, presumably triggered by inherited factors. Results: No case control association was found between analyzed polymorphisms and a risk of childhood ALL development. Conclusions: Our data suggest that late age of ALL onset could be triggered by mild effect common alleles
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