Τίτλος:
High frequency of NAD(P)H: Quinone oxidoreductase 1 (NQO1) C609T germline polymorphism in MDS/AML with trisomy 8
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
The NQO1 C609T germline polymorphism resulting in a lowering of enzyme activity may confer susceptibility to MDS. To assess this association, we performed a case-control study including 330 Greek patients with de novo MDS and 416 healthy donors, using a Real-Time PCR genotyping method. Focusing on cytogenetic aberrations most commonly found in MDS, we retrospectively genotyped 566 MDS/AML patients carrying -5/del(5q), -7/del(7q), +8, del(20q) and -Y. The case-control analysis revealed no differences in NQO1 genotype distribution. Interestingly, a 6-fold increased frequency of the homozygous variant genotype was observed among patients with isolated trisomy 8 (p<0.0001), suggesting that null NQO1 activity may influence the occurrence of +8 in MDS/AML. © 2013 Elsevier Ltd.
Συγγραφείς:
Zachaki, S.
Stavropoulou, C.
Koromila, T.
Manola, K.N.
Kalomoiraki, M.
Daraki, A.
Koumbi, D.
Athanasiadou, A.
Kanavakis, E.
Kollia, P.
Sambani, C.
Περιοδικό:
Leukemia Research
Λέξεις-κλειδιά:
cytosine; proline; reduced nicotinamide adenine dinucleotide (phosphate) dehydrogenase (quinone); serine; thymine, acute granulocytic leukemia; adult; aged; amino acid substitution; article; case control study; chromosome analysis; chromosome deletion; chromosome deletion 20q; chromosome deletion 5q; chromosome deletion 7q; chromosome deletion Y; controlled study; enzyme activity; female; gene frequency; genetic association; genetic polymorphism; genetic susceptibility; genotype; germ line; Greece; homozygosity; human; major clinical study; male; myelodysplastic syndrome; NQO1 gene; pathogenesis; priority journal; real time polymerase chain reaction; restriction fragment length polymorphism; trisomy 8, Adult; Aged; Aged, 80 and over; Case-Control Studies; Chromosome Aberrations; Chromosomes, Human, Pair 8; Female; Follow-Up Studies; Genotype; Germ-Line Mutation; Humans; Leukemia, Myeloid, Acute; Male; Middle Aged; Myelodysplastic Syndromes; NAD(P)H Dehydrogenase (Quinone); Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Prognosis; Retrospective Studies; Trisomy; Young Adult
DOI:
10.1016/j.leukres.2013.04.015
