High frequency of NAD(P)H:quinone oxidoreductase 1 ( NQO1 ) C609 T germline polymorphism in MDS/AML with trisomy 8

Abstract The NQO1 C609 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.