The impact of CYP2D6*4 and GSTP1 Ile105Val polymorphisms on the susceptibility to develop BCR-ABL1 negative myeloprolife
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ORIGINAL ARTICLE
The impact of CYP2D6*4 and GSTP1 Ile105Val polymorphisms on the susceptibility to develop BCR‑ABL1 negative myeloproliferative neoplasms Aynur Daglar‑Aday1 · Basak Akadam‑Teker2 · Ipek Yonal‑Hindilerden3 · Hasan Dermenci4 · Ezgi Sahin5 · Fehmi Hindilerden6 · Hulya Yilmaz‑Aydogan7 · Oguz Ozturk7 · Akif Selim Yavuz3 Received: 18 June 2020 / Accepted: 28 August 2020 © Springer Nature B.V. 2020
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 between CYP2D6*4 and GSTP1 Ile105Val polymorphisms and the risk of developing BCR-ABL1 negative myeloproliferative neoplasms (MPN). PCR-RFLP was used for genotyping single nucleotide polymorphisms (SNP) in CYP2D6 and GSTP1 in 139 patients with MPN and 126 controls. There was a significantly increased risk for developing BCR-ABL1 negative MPN for the group bearing the CYP2D6*4 variant allele (X2: 4.487; OR 1.738; 95% CI 1.040–2.904; p = 0.034). The platelet count was higher in CYP2D6*4 allele carriers (p = 0.047). There was no association between the GSTP1 Ile105Val polymorphism and the risk of developing MPNs. MPN patients bearing the GSTP1 Ile105Val variant allele had a higher prevalence of bleeding complications ( X2: 7.510; OR 4.635; 95% CI 1.466–14.650; p = 0.006). Our study provides new data that the CYP2D6*4 polymorphism may be associated with an increased risk to develop MPNs while the GSTP1 Ile105Val polymorphism does not show such an association. To our knowledge, the current study is the first to investigate the relationship between CYP2D6*4 and GSTP1 Ile105Val polymorphisms and the risk of developing MPNs in the Turkish population. Further studies with more patients and controls are needed to support our data. Keywords Polymorphism · Myeloproliferative neoplasms · Xenobiotics · CYP2D6*4 · GSTP1 Ile105Val Abbreviations MPN Myeloproliferative neoplasm CYP2D6 Cytochrome P450 2D6
GSTP1 Glutathione S-transferase P1 SNP Single nucleotide polymorphism
* Aynur Daglar‑Aday [email protected]
2
Department of Medical Genetics, Faculty of Medicine, Giresun University, Giresun, Turkey
Basak Akadam‑Teker [email protected]
3
Division of Hematology, Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
4
Division of Hematology, Department of Internal Medicine, Haydarpaşa Numune Training and Research Hospital, Istanbul, Turkey
5
Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
6
Hematology Clinic, Istanbul Bakırkoy Sadi Konuk Training and Research Hospital, Istanbul, Turkey
7
Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey
Ezgi Sahin [email protected] Hulya Yilmaz‑Aydogan [email protected] Oguz Ozturk oguzo
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