title: Among a panel of polymorphisms in genes related to oxidative stress, CAT-262 C>T, GPX1 Pro198Leu and GSTP1 Ile105Val influence the risk of developing BCR-ABL negative myeloproliferative neoplasms.
abstract: OBJECTIVE
  To analyze the relationship between six polymorphisms in genes related to oxidative stress, namely CAT-262 C>T, MnSOD Ala16Val, GPX1 Pro198Leu, GSTM1 and GSTT1 null genotypes, and GSTP1 Ile105Val, and the occurrence of BCR-ABL negative myeloproliferative neoplasms (polycythemia vera, essential thrombocythemia, and primary myelofibrosis).
  
  
  METHODS
  We genotyped for these polymorphisms 328 patients with a known mutation status for JAK2 V617F, MPL and CALR, and 363 controls, using molecular genetics assays.
  
  
  RESULTS
  The CAT-262 C>T and GPX1 Pro198Leu polymorphisms were seen significantly less frequently, while the GSTP1 IleVal105 polymorphism was seen significantly more frequently in patients with BCR-ABL negative myeloproliferative neoplasms, regardless of the molecular sub-type (e.g. JAK2 V617F or CALR mutated).
  
  
  CONCLUSIONS
  Our study provides evidence that variation in genes related to oxidative stress might modulate the risk of developing BCR-ABL negative myeloproliferative neoplasms.
authors.affiliation: a Department of Medical Genetics, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania.|b Department of Genetics , "Ion Chiricuță" Cancer Institute , Cluj-Napoca , Romania.
authors.forename: Adrian P
authors.initials: AP
authors.lastname: Trifa
authors.affiliation: c Department of Genetics , University of Medicine and Pharmacy , Tîrgu-Mureș , Romania.
authors.forename: Claudia
authors.initials: C
authors.lastname: Bănescu
authors.affiliation: d Department of Hematology, "Ion Chiricuță" Cancer Institute , Cluj-Napoca , Romania.
authors.forename: Delia
authors.initials: D
authors.lastname: Dima
authors.affiliation: d Department of Hematology, "Ion Chiricuță" Cancer Institute , Cluj-Napoca , Romania.|e Department of Hematology, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania.
authors.forename: Anca S
authors.initials: AS
authors.lastname: Bojan
authors.affiliation: f Department of Hematology , Colentina Hospital , Bucharest , Romania.
authors.forename: Mihaela
authors.initials: M
authors.lastname: Tevet
authors.affiliation: c Department of Genetics , University of Medicine and Pharmacy , Tîrgu-Mureș , Romania.
authors.forename: Valeriu G
authors.initials: VG
authors.lastname: Moldovan
authors.affiliation: g Department of Pharmacology and Toxicology, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania.
authors.forename: Ștefan C
authors.initials: ȘC
authors.lastname: Vesa
authors.affiliation: f Department of Hematology , Colentina Hospital , Bucharest , Romania.
authors.forename: Meilin
authors.initials: M
authors.lastname: Murat
authors.affiliation: a Department of Medical Genetics, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania.
authors.forename: Ioan V
authors.initials: IV
authors.lastname: Pop
authors.affiliation: h Arabian Gulf University, College of Medicine, Al Jawhara Center for Molecular Medicine , Manama , Bahrain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Skrypnyk
authors.affiliation: a Department of Medical Genetics, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania.
authors.forename: Radu A
authors.initials: RA
authors.lastname: Popp
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002374:Catalase / Q000235:genetics; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D016313:Genes, abl; D005838:Genotype; D005979:Glutathione Peroxidase / Q000235:genetics; D051549:Glutathione S-Transferase pi / Q000235:genetics; D005982:Glutathione Transferase / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism; D018384:Oxidative Stress / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013482:Superoxide Dismutase / Q000235:genetics; D000094765:Glutathione Peroxidase GPX1
chemical_list: D002374:Catalase; D005979:Glutathione Peroxidase; D013482:Superoxide Dismutase; C413545:glutathione S-transferase T1; C496556:GSTP1 protein, human; D051549:Glutathione S-Transferase pi; D005982:Glutathione Transferase; D016044:Fusion Proteins, bcr-abl; D000094765:Glutathione Peroxidase GPX1; C000722067:GPX1 protein, human
keywords: BCR-ABL negative myeloproliferative neoplasms; Genetic polymorphisms; Oxidative stress