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NQO1*2 polymorphism predicts overall survival in MDS patients

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F19%3A00497048" target="_blank" >RIV/68378050:_____/19:00497048 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/19:10396071 RIV/00064165:_____/19:10396071

  • Result on the web

    <a href="https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.15088" target="_blank" >https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.15088</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1111/bjh.15088" target="_blank" >10.1111/bjh.15088</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    NQO1*2 polymorphism predicts overall survival in MDS patients

  • Original language description

    NAD(P)H quinone dehydrogenase 1 (NQO1) is an enzyme that detoxifies quinones and reduces oxidative stress. The naturally occurring germline polymorphism of NQO1 (NQO1*2) with a cytosine–to-thymidine substitution at nucleotide position 609 of the NQO1 cDNA results in the loss of NQO1 activity and rapid degradation of the protein encoded by NQO1*2 due to an unstable structure. The loss of NQO1 activity can result into disease susceptibility and therapeutic response. Examining a cohort of 187 MDS patients we studied how the presence of NQO1*2 polymorphism affects the development and progression of MDS and assessed the correlation between NQO1*2 and the overall survival (OS, calculated from the date of diagnosis), presence of karyotypic abnormalities, and response to hypomethylating therapy in MDS patients. We found that the presence of NQO1*2 alleles is associated with higher probability of the development of MDS, faster disease progression, sensitivity to blood transfusion-provoked iron overload, and shorter expected OS.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30101 - Human genetics

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2019

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    British Journal of Haematology

  • ISSN

    0007-1048

  • e-ISSN

  • Volume of the periodical

    184

  • Issue of the periodical within the volume

    2

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    4

  • Pages from-to

    305-308

  • UT code for WoS article

    000455218700027

  • EID of the result in the Scopus database