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High frequency of NAD(P)H:quinone oxidoreductase 1 (NQO1) C(609)T germline polymorphism in MDS/AML with trisomy 8.

Authors: Zachaki, S  Stavropoulou, C  Koromila, T  Manola, KN  Kalomoiraki, M  Daraki, A  Koumbi, D  Athanasiadou, A  Kanavakis, E  Kollia, P  Sambani, C 
Citation: Zachaki S, etal., Leuk Res. 2013 Jul;37(7):742-6. doi: 10.1016/j.leukres.2013.04.015. Epub 2013 May 1.
Pubmed: (View Article at PubMed) PMID:23643325
DOI: Full-text: DOI:10.1016/j.leukres.2013.04.015

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.


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RGD Object Information
RGD ID: 10769356
Created: 2016-02-10
Species: All species
Last Modified: 2016-02-10
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.