JAK2V617F mutasyonu pozitif miyeloproliferatif hastalıklarda GSTM1, GSTT1, GSTP1 gen polimorfizmlerinin araştırılması
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Date
2015
Authors
Topak, Ali
Journal Title
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Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Bazı kanser türlerine yatkınlık ile Faz II detoksifikasyon reaksiyonlarında yer alan Glutatyon-S-Transferaz (GST) enzimi genlerinin polimorfizmleri arasında ilişki gösterilmiştir. Bu çalışmada, Miyeloproliferatif hastalıklar ile GSTT1, GSTM1 ve GSTP1 (Ile105Val) gen polimorfizmi arasındaki ilişkiyi araştırmayı amaçladık. Çalışmamıza, 57 Polisitemia Vera (PV), 61 Esansiyel Trombositoz (ET) tanılı hasta ve herhangi bir kanser öyküsü olmayan 108 kontrol dahil edildi. Hasta grubu ve kontrol grubunun arşiv DNA materyallerine bu hastalıkların gelişimi ile ilişkili olabilecek GSTP1 (Ile105Val) gen polimorfizmi için polimeraz zincir reaksiyonu-restriksiyon fragment uzunluk polimorfizmi (polymerase chain reaction-restriction fragment length polymorphism=PCR-RFLP) yöntemi uygulandı. GSTT1 ve GSTM1 gen polimorfizmlerini belirlemede Multiplex PCR kullanıldı. İstatistiksel analizde p<0.05 değeri anlamlı kabul edildi. Çalışmamızda JAK2V617F mutasyonu pozitif miyeloproliferatif hastalık ile GSTT1 delesyon polimorfizmi ve GSTP1 (Ile105Val) gen polimorfizmleri arasında ilişki saptanmazken, GSTM1 delesyon polimorfizmi hasta grubunda anlamlı olarak yüksek saptandı. Miyeloproliferatif hasta grubunda vasküler olay geçirme oranının kronik hastalık birlikteliği ile arttığını tespit ettik. Bulgularımız JAK2V617F mutasyonu pozitif miyeloproliferatif hastalık ile GSTM1 delesyon polimorfizimi arasında ilişki olduğunu göstermiştir. Gelecekte daha fazla olgu ile yapılan çalışmalar miyeloproliferatif hastalık ve GST gen polimorfizmleri ilişkisinin desteklenmesine yardımcı olacaktır.
There is an established relationship between predisposition to several cancer types and polymorphisms of genes of Glutathione-S-Transferase (GST) enzyme that takes part in phase II detoxification reactions. The aim of this study is to investigate the relationship between GSTT1, GSTM1, and GSTP1 (Ile105Val) gene polymorphisms and myeloproliferative diseases. In this study, 57 patients with polycythemia vera (PV), 61 patients with essential thrombocytosis (ET), and 108 control subjects without history of cancer were enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied to archived DNA materials of patient and control groups in order to detect the GSTP1 (Ile105Val) gene polymorphism. Multiplex PCR was performed to research polymorphisms of GSTT1 and GSTM1 genes. p<0.05 was considered statistically significant. We did not find a relationship between JAK2V617F mutant myeloproliferative disease and GSTT1 deletion polymorphism and GSTP1 (Ile105Val) gene polymorphisms. However, GSTM1 deletion polymorphism was significantly higher in the patient group. We detected that the rate to have a vascular incidence increased with coexistence of chronic diseases in myeloproliferative patients' group. Our results suggest that there is a relationship between JAK2V617F mutant myeloproliferative disease and GSTM 1 deletion polymorphism. Further studies with larger patient groups are required in order to substantiate the relationship between GST gene polymorphisms and myeloproliferative diseases.
There is an established relationship between predisposition to several cancer types and polymorphisms of genes of Glutathione-S-Transferase (GST) enzyme that takes part in phase II detoxification reactions. The aim of this study is to investigate the relationship between GSTT1, GSTM1, and GSTP1 (Ile105Val) gene polymorphisms and myeloproliferative diseases. In this study, 57 patients with polycythemia vera (PV), 61 patients with essential thrombocytosis (ET), and 108 control subjects without history of cancer were enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied to archived DNA materials of patient and control groups in order to detect the GSTP1 (Ile105Val) gene polymorphism. Multiplex PCR was performed to research polymorphisms of GSTT1 and GSTM1 genes. p<0.05 was considered statistically significant. We did not find a relationship between JAK2V617F mutant myeloproliferative disease and GSTT1 deletion polymorphism and GSTP1 (Ile105Val) gene polymorphisms. However, GSTM1 deletion polymorphism was significantly higher in the patient group. We detected that the rate to have a vascular incidence increased with coexistence of chronic diseases in myeloproliferative patients' group. Our results suggest that there is a relationship between JAK2V617F mutant myeloproliferative disease and GSTM 1 deletion polymorphism. Further studies with larger patient groups are required in order to substantiate the relationship between GST gene polymorphisms and myeloproliferative diseases.
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Keywords
Miyeloproliferatif hastalık, Glutatyon-S-Transferaz, GSTM1, GSTT1, GSTP1, Myeloproliferative disease, Glutathione-S-Transferase
Citation
Topak, A. (2015). JAK2V617F mutasyonu pozitif miyeloproliferatif hastalıklarda GSTM1, GSTT1, GSTP1 gen polimorfizmlerinin araştırılması. Yayınlanmamış uzmanlık tezi. Uludağ Üniversitesi Tıp Fakültesi.