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. Foc...
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| Veröffentlicht in: | Leukemia research 2013, Vol.37 (7), p.742-746 |
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| creator | Zachaki, Sophia Stavropoulou, Chrysa Koromila, Theodora Manola, Kalliopi N Kalomoiraki, Marina Daraki, Aggeliki Koumbi, Daphne Athanasiadou, Anastasia Kanavakis, Emmanuel Kollia, Panagoula Sambani, Constantina |
| description | 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. |
| doi_str_mv | 10.1016/j.leukres.2013.04.015 |
| format | Article |
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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.</abstract><doi>10.1016/j.leukres.2013.04.015</doi></addata></record> |
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| issn | 0145-2126 |
| language | eng |
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| source | Elsevier ScienceDirect Journals Complete |
| subjects | Hematology, Oncology and Palliative Medicine |
| title | High frequency of NAD(P)H:quinone oxidoreductase 1 ( NQO1 ) C609 T germline polymorphism in MDS/AML with trisomy 8 |
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