Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
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Advances in Clinical and Experimental Medicine

2017, vol. 26, nr 5, August, p. 761–765

doi: 10.17219/acem/63087

Publication type: original article

Language: English

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The role of certain gene polymorphisms involved in the apoptotic pathways in polycythemia vera and essential thrombocytosis

Gurbet Dogru1,A,B,C,D, Ozlem Izci Ay1,A,C,D, Mehmet Emin Erdal1,C,E, Mustafa Ertan Ay1,C,D,E, Anıl Tombak2,B,C, Umit Karakas1,E,F

1 Department of Medical Biology and Genetics, Faculty of Medicine, Mersin University, Mersin, Turkey

2 Department of Heamatology, Faculty of Medicine, Mersin University, Mersin, Turkey

Abstract

Background. Polycythemia vera (PV) and essential thrombocytosis (ET) are hematological disorders characterized by excessive production of mature and functional blood cells. These cellular disorders are thought to be associated with impaired apoptosis, which is one of the major cellular death mechanisms in hematopoietic cells.
Objectives. In this study, our objective was to examine the association between potential polymorphisms of the Bcl 2, Bax, Fas and Fas Ligand genes involved in apoptosis and the occurrence of PV and ET.
Material and Methods. A total of 93 patients diagnosed with PV (n = 38) or ET (n = 55) at the Department of Hematology were included in this study, and 93 healthy individuals served as controls. DNA isolation was performed in blood samples obtained from both groups of subjects to determine the Bcl 2, Bax, Fas, and Fas L genotypes using the real-time PCR method.
Results. No statistically significant differences between controls and patients were found in terms of Fas -670 G > A (rs1800682), Fas -1377 G > A (rs2234767), Fas L IVS2 -124 A > G (rs5030772), Bax -248 G > A (rs4645878) and Bcl 2 -938 C > A (rs2279115) polymorphisms, genotypes, and allele frequency (p > 0.05).
Conclusion. The results show that polymorphisms in the Bcl 2, Bax, Fas, and Fas Ligand genes involved in the apoptotic pathways may not play a role in the pathogenesis of PV and ET.

Key words

polymorphism, polycythemia vera (PV), essential thrombocytosis (ET), apoptotic pathway genes

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