@article{3088714,
    title = "High frequency of NAD(P)H: Quinone oxidoreductase 1 (NQO1) C609T germline polymorphism in MDS/AML with trisomy 8",
    author = "Zachaki, S. and Stavropoulou, C. and Koromila, T. and Manola, K.N. and Kalomoiraki, M. and Daraki, A. and Koumbi, D. and Athanasiadou, A. and Kanavakis, E. and Kollia, P. and Sambani, C.",
    journal = "Leukemia Research",
    year = "2013",
    volume = "37",
    number = "7",
    pages = "742-746",
    issn = "0145-2126",
    doi = "10.1016/j.leukres.2013.04.015",
    keywords = "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",
    abstract = "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."
}