title: High frequency of NAD(P)H:quinone oxidoreductase 1 (NQO1) C(609)T germline polymorphism in MDS/AML with trisomy 8.
abstract: The NQO1 C(609)T 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.
authors: Laboratory of Health Physics, Radiobiology and Cytogenetics, NCSR Demokritos, Athens, Greece.
authors: Sophia
authors: S
authors: Zachaki
authors: Chrysa
authors: C
authors: Stavropoulou
authors: Theodora
authors: T
authors: Koromila
authors: Kalliopi N
authors: KN
authors: Manola
authors: Marina
authors: M
authors: Kalomoiraki
authors: Aggeliki
authors: A
authors: Daraki
authors: Daphne
authors: D
authors: Koumbi
authors: Anastasia
authors: A
authors: Athanasiadou
authors: Emmanuel
authors: E
authors: Kanavakis
authors: Panagoula
authors: P
authors: Kollia
authors: Constantina
authors: C
authors: Sambani
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis; D012189:Retrospective Studies; D014314:Trisomy / Q000235:genetics*; D055815:Young Adult
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); C447479:NQO1 protein, human