Adrian P Trifa1,2, Claudia Bănescu3, Delia Dima4, Anca S Bojan4,5, Mihaela Tevet6, Valeriu G Moldovan3, Ștefan C Vesa7, Meilin Murat6, Ioan V Pop1, Cristina Skrypnyk8, Radu A Popp1. 1. a Department of Medical Genetics, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania. 2. b Department of Genetics , "Ion Chiricuță" Cancer Institute , Cluj-Napoca , Romania. 3. c Department of Genetics , University of Medicine and Pharmacy , Tîrgu-Mureș , Romania. 4. d Department of Hematology, "Ion Chiricuță" Cancer Institute , Cluj-Napoca , Romania. 5. e Department of Hematology, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania. 6. f Department of Hematology , Colentina Hospital , Bucharest , Romania. 7. g Department of Pharmacology and Toxicology, "Iuliu Hațieganu" University of Medicine and Pharmacy , Cluj-Napoca , Romania. 8. h Arabian Gulf University, College of Medicine, Al Jawhara Center for Molecular Medicine , Manama , Bahrain.
Abstract
OBJECTIVES: 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). DISCUSSION AND CONCLUSION: Our study provides evidence that variation in genes related to oxidative stress might modulate the risk of developing BCR-ABL negative myeloproliferative neoplasms.
OBJECTIVES: 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 GSTP1Ile105Val, 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). DISCUSSION AND CONCLUSION: Our study provides evidence that variation in genes related to oxidative stress might modulate the risk of developing BCR-ABL negative myeloproliferative neoplasms.