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

作者：Zachaki Sophia; Stavropoulou Chrysa; Koromila Theodora; Manola Kalliopi N; Kalomoiraki Marina; Daraki Aggeliki; Koumbi Daphne; Athanasiadou Anastasia; Kanavakis Emmanuel; Kollia Panagoula; Sambania Constantina^*

来源：Leukemia Research, 2013, 37(7): 742-746.

DOI：10.1016/j.leukres.2013.04.015

• MDS
• AML
• Genetic susceptibility
• Single nucleotide polymorphism (SNP)
• NAD(P)H:quinone oxidoreductase 1 (NQO1)
• Trisomy 8 (+8)

The NQO1 (CT)-T-609 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 %26lt; 0.0001), suggesting that null NQO1 activity may influence the occurrence of + 8 in MDS/AML.

• 出版日期2013-7