The impact ofCYP2D6*4andGSTP1Ile105Val polymorphisms on the susceptibility to develop BCR-ABL1 negative myeloproliferative neoplasms

Abstract

Inter-individual variations in the genes encoding xenobiotic-metabolizing enzymes have been reported to alter susceptibility to various diseases involving hematological disorders. The purpose of this case-control study was to investigate the relationship betweenCYP2D6*4andGSTP1Ile105Val polymorphisms and the risk of developing BCR-ABL1 negative myeloproliferative neoplasms (MPN). PCR-RFLP was used for genotyping single nucleotide polymorphisms (SNP) inCYP2D6andGSTP1in 139 patients with MPN and 126 controls. There was a significantly increased risk for developing BCR-ABL1 negative MPN for the group bearing theCYP2D6*4variant allele (X-2: 4.487; OR 1.738; 95% CI 1.040-2.904; p = 0.034). The platelet count was higher inCYP2D6*4allele carriers (p = 0.047). There was no association between theGSTP1Ile105Val polymorphism and the risk of developing MPNs. MPN patients bearing theGSTP1Ile105Val variant allele had a higher prevalence of bleeding complications (X-2: 7.510; OR 4.635; 95% CI 1.466-14.650; p = 0.006). Our study provides new data that theCYP2D6*4polymorphism may be associated with an increased risk to develop MPNs while theGSTP1Ile105Val polymorphism does not show such an association. To our knowledge, the current study is the first to investigate the relationship betweenCYP2D6*4andGSTP1Ile105Val polymorphisms and the risk of developing MPNs in the Turkish population. Further studies with more patients and controls are needed to support our data.