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.

Objectives: To analyze the relationship between six polymorphisms in genes related to oxidative stress, namelyCAT-262 C>T,MnSODAla16Val,GPX1Pro198Leu,GSTM1andGSTT1null genotypes, andGSTP1Ile105Val, and the occurrence ofBCR-ABLnegative myeloproliferative neoplasms (polycythemia vera, essential thrombocythemia, and primary myelofibrosis). Methods: We genotyped for these polymorphisms 328 patients with a known mutation status forJAK2V617F,MPLandCALR, and 363 controls, using molecular genetics assays. Results: TheCAT-262 C>T andGPX1Pro198Leu polymorphisms were seen significantly less frequently, while theGSTP1IleVal105 polymorphism was seen significantly more frequently in patients withBCR-ABLnegative myeloproliferative neoplasms, regardless of the molecular sub-type (e.g.JAK2V617F orCALRmutated). Discussion and conclusion: Our study provides evidence that variation in genes related to oxidative stress might modulate the risk of developingBCR-ABLnegative myeloproliferative neoplasms. [ABSTRACT FROM AUTHOR]