NQO1*2 polymorphism predicts overall survival in MDS patients

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

NQO1*2 polymorphism predicts overall survival in MDS patients

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

NQO1*2 polymorphism predicts overall survival in MDS patients

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2019

Kód důvěrnosti údajů

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

Název periodika

British Journal of Haematology

ISSN

0007-1048

e-ISSN

—

Svazek periodika

184

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

4

Strana od-do

305-308

Kód UT WoS článku

000455218700027

EID výsledku v databázi Scopus

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