Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık

Topak, Ali; Gorukmez, Ozlem; gorukmez, orhan; Türe, Mehmet; ozemri sag, sebnem; Sahinturk, Serdar; Yakut, Tahsin

doi:10.5578/llm.20239804

Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık

Ali TOPAK, (Bursa Şehir Hastanesi, Tıbbi Genetik Kliniği, Bursa, Türkiye)

Özlem GÖRÜKMEZ, (Bursa Şehir Hastanesi, Tıbbi Genetik Kliniği, Bursa, Türkiye)

Orhan GÖRÜKMEZ, (Bursa Şehir Hastanesi, Tıbbi Genetik Kliniği, Bursa, Türkiye)

Şebnem ÖZEMRİ SAĞ, (Uludağ Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Bursa, Türkiye)

Serdar ŞAHİNTÜRK, (Uludağ Üniversitesi, Tıp Fakültesi, Fizyoloji Anabilim Dalı, Bursa, Türkiye)

Tahsin YAKUT, (İstinye Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, İstanbul, Türkiye)

Mehmet TÜRE (Özel Jimer Hastanesi, Tıbbi Genetik Kliniği, Bursa, Türkiye)

Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları

14 3

Yıl: 2023 Cilt: 7 Sayı: 2 Sayfa Aralığı: 65 - 72 Metin Dili: Türkçe DOI: 10.5578/llm.20239804 İndeks Tarihi: 02-11-2023

Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık

Öz:

Amaç: Ksenobiyotiklerin biyotransformasyonunda yer alan enzimleri kodlayan genlerin polimorfizmleri ile çeşitli kanserlere yatkınlık arasındaki ilişkiler, farklı çalışmalarda gösterilmiştir. Bu çalışmanın amacı, Türk popülasyonunda GST gen polimorfizmleri ile JAK2 pozitif miyeloproliferatif hastalıklara yatkınlık arasındaki ilişkiyi değerlendirmektir. Hastalar ve Yöntem: Bu çalışmaya polisitemi veralı (PV) 57 hasta, esansiyel trombositozu (ET) olan 61 hasta ve kanser öyküsü olmayan 108 kontrol deneği dahil edildi. GSTP1 (Ile105Val) gen polimorfizmini saptamak amacıyla hasta ve kontrol gruplarına ait arşivlenmiş DNA materyallerine polimeraz zincir reaksiyonu-kısıtlama fragman uzunluk polimorfizmi (PCR-RFLP) yöntemi uygulandı. GSTT1 ve GSTM1 genlerinin polimorfizmlerini araştırmak için multipleks PCR yapıldı. p< 0.05 istatistiksel olarak anlamlı kabul edildi. Bulgular: Miyeloproliferatif hastalık ile GSTT1 delesyon polimorfizmi ve GSTP1 (Ile105Val) gen polimorfizmi arasında bir ilişki bulamadık. Ancak GSTM1 delesyon polimorfizmi hasta grubunda anlamlı olarak daha sıktı. Miyeloproliferatif hasta grubunda kronik hastalık birlikteliği ile vasküler olay geçirme oranının arttığını saptadık. Sonuç: Mevcut çalışmanın sonuçları, miyeloproliferatif hastalık ile GSTM1 delesyon polimorfizmi arasında bir ilişki olduğunu düşündürmektedir. GST gen polimorfizmleri ile miyeloproliferatif hastalıklar arasındaki ilişkiyi kanıtlamak için daha geniş hasta grupları üzerinde daha fazla çalışmaya ihtiyaç vardır.

Anahtar Kelime: Miyeloproliferatif hastalık GSTM1 GSTT1 GSTP1

Glutathione S-Transferase Gene Polymorphisms and Susceptibility to Chronic Myeloproliferative Disease

Öz:

Objective: Associations between polymorphisms of genes encoding enzymes involved in bio - transformation of xenobiotics and susceptibility to several cancers have been shown in several studies. The aim of this study is to evaluate the association between GST gene polymorphisms and susceptibility to JAK2 positive myeloproliferative diseases in Turkish population. Patients and Methods: 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. Results: We did not find a relationship between myeloproliferative disease and GSTT1 deletion polymorphism and GSTP1 (Ile105Val) gene polymorphism. However, GSTM1 deletion polymorphism was significantly more frequent in the patient group. We detected that the rate to have a vascular incident increased with coexistence of chronic diseases in myeloproliferative patients’ group. Conclusion: Results of the current study suggest that there is a relationship between myeloproliferative disease and GSTM1 deletion polymorphism. Further studies on larger patient groups are required in order to substantiate the relationship between GST gene poly- morphisms and myeloproliferative diseases.

Anahtar Kelime: Myeloproliferative disease GSTM1 GSTT1 GSTP1

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

1. Lichtman MA, Liesveld JL. Chronic myelogenous leukemia and relateddisorders. In: Beutler E, Lichtman MA, Coller BS, eds. Williams Hematology. 6th ed. New York: McGraw-Hill, 2001: 1085- 1123.
2. Kaushansky K. Hematopoietic growth factors, signaling and the chronic myeloproliferative disorders. Cytokine Growth Factor Rev 2006;17:423-30. https://doi.org/10.1016/j.cytogfr.2006.09.005
3. Anía BJ, Suman VJ, Sobell JL, Codd MB, Silverstein MN, Melton LJ 3rd. Trends in the incidence of polycythemia vera among Olmsted county, Minnesota residents, 1935-1989. Am J Hematol 1994;47:89-93. https://doi.org/10.1002/ajh.2830470205
4. Beer AP, Green AR. Pathogenesis and management of essential thrombocythemia. Hematology Am Soc Hematol Educ Prog 2009;621-8. https://doi.org/10.1182/asheducation-2009.1.621
5. Tefferi A. JAK2 mutations in myeloproliferative disorders. Molecular mechanisms and clinical applications. N Engl J Med 2007;356:444-5 https://doi.org/10.1056/NEJMp068293
6. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, et al. Definition ofsubtypes of essential thrombocythaemia and relation to polycythaemia vera basedon JAK2 V617F mutation status: A prospective study. Lancet 2005;366:1945-53. https:// doi.org/10.1016/S0140-6736(05)67785-9
7. Barbui T, Thiele J, Gisslinger H, Kvasnicka HM, Vannucchi AM, Guglielmelli P, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: Document summary and indepth discussion. Blood Cancer J 2018;8:15. https://doi. org/10.1038/s41408-018-0054-y
8. Hayes JD, Pulford DJ. The glutathione S-transferase supergene family: Regulation of GST and the contribution of the isoenzymes to cancer chemoprotection and drug resistance.’ crit rev biochem Mol Biol 1995;30:445-600. https://doi. org/10.3109/10409239509083491
9. Egan KM, Cai Q, Shu XO, Jin F, Zhu TL, Dai Q, et al. Genetic polymorphisms in GSTM1, GSTP1, and GSTT1 and the risk for breast cancer: Results from the Shanghai Breast Cancer Study and meta-analysis. Cancer Epidemiol Biomarkers Prev 2004;13(2):197- 204 https://doi.org/10.1158/1055-9965.EPI-03-0294
10. Strange R, Jones P, Fryer A. Glutathione S-transferase: Genetics and role in toxicology. Toxicology Letters 2000;112-113:357-363. https://doi.org/10.1016/S0378-4274(99)00230-1
11. Ali Osman F, Akande O, Antoun G, Mao JX, Buolamwini J. Molecular cloning, characterization, and expression in Escherichia coli of full- length cDNAs of three human glutathione S-transferase Pi gene variants. Evidence for differential catalytic activity of the encoded proteins. J Biol Chem 1997;272:10004-12. https://doi. org/10.1074/jbc.272.15.10004
12. Zimniak P, Nanduri B, Pikula S. Naturally occurring human glutathione S-transferase GSTP1-1 isoforms with isoleucine and valine in position 104 differ in enzymic properties. Eur J Biochem 1994;224:893-9. https://doi.org/10.1111/j.1432- 1033.1994.00893.x
13. Hezova R, Bienertova-Vasku J, Sachlova M, Brezkova V, Vasku A, Svoboda M, et al. Common polymorphisms in GSTM1, GSTT1, GSTP1, GSTA1 and susceptibility to colorectal cancer in the Central European population. Eur J Med Res 2012;17:17. https://doi. org/10.1186/2047-783X-17-17
14. Kiran B, Karkucak M, Ozan H, Yakut T, Ozerkan K, Sag S, et al. GST (GSTM1, GSTT1, and GSTP1) polymorphisms in the genetic susceptibility of Turkish patients to cervical cancer. J Gynecol Oncol 2010;21:169-73. https://doi.org/10.3802/jgo.2010.21.3.169
15. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951;6(4):372-5. https://doi.org/10.1182/blood. V6.4.372.372
16. Chen CL, Liu Q, Relling MV. Simultaneous characterization of glutathione S-transferase M1 and T1 polymorphisms by polymerase chain reaction in American whites and blacks. Pharmacogenetics 1996;6:187-91. https://doi.org/10.1097/00008571- 199604000-00005
17. Ateş NA, Unal M, Tamer L, Derici E, Karakaş S, Ercan B, et al. Glutathione S-transferase gene polymorphisms in presbycusis. Otol Neurotol 2005;26:392-7. https://doi.org/10.1097/01. mao.0000169774.23668.f1
18. Krüger M, Pabst AM, Mahmoodi B, Becker B, Kämmerer PW, Koch FP. The impact of GSTM1/GSTT1 polymorphism for the risk of oral cancer. Clin Oral Investig 2015. https://doi.org/10.1007/ s00784-015-1400-0
19. Phukan RK, Saikia BJ, Borah PK, Zomawia E, Sekhon GS, Mahanta J. Role of household exposure, dietary habits and glutathione S-Transferases M1, T1 polymorphisms in susceptibility to lung cancer among women in Mizoram India. Asian Pac J Cancer Prev 2014;15(7):3253-60 https://doi.org/10.7314/APJCP.2014.15.7.3253
20. Stosic I, Grujicic D, Arsenijevic S, Brkic M, Milosevic-Djordjevic O. Glutathione S-transferase T1 and M1 polymorphisms and risk of uterine cervical lesions in women from central Serbia. Asian Pac J Cancer Prev 2014;15(7):3201-5. https://doi.org/10.7314/APJCP.2014.15.7.3201
21. Berber U, Yilmaz I, Yilmaz O, Haholu A, Kucukodaci Z, Ates F, et al. CYP1A1 (Ile462Val), CYP1B1 (Ala119Ser and Val432Leu), GSTM1 (null), and GSTT1 (null) polymorphisms and bladder cancer risk in a Turkish population. Asian Pac J Cancer Prev 2013;14(6):3925- 9. https://doi.org/10.7314/APJCP.2013.14.6.3925
22. Chirila DN, Popp RA, Balacescu O, Turdeanu NA, Constantea NA, Pop TR, et al. GST gene variants in synchronous colorectal cancers and synchronous association of colorectal cancers with other cancers. Chirurgia (Bucur) 2013;108(3):365-71.
23. Bin Q, Luo J. Role of polymorphisms of GSTM1, GSTT1 and GSTP1 Ile105Val in Hodgkin and non-Hodgkin lymphoma risk: A Human Genome Epidemiology (HuGE) review. Leuk Lymphoma 2013;54(1):14-20. https://doi.org/10.3109/10428194.2012.7062 84
24. Dunna NR, Vure S, Sailaja K, Surekha D, Raghunadharao D, Rajappa S, et al. Deletion of GSTM1 and T1 genes as a risk factor for development of acute leukemia. Asian Pac J Cancer Prev 2013;14(4):2221-4. https://doi.org/10.7314/APJCP.2013.14.4.2221
25. Zhou L, Zhu YY, Zhang XD, Li Y, Liu ZG. Risk effects of GST gene polymorphisms in patients with acute myeloid leukemia: Aprospective study. Asian Pac J Cancer Prev 2013;14(6):3861-4. https:// doi.org/10.7314/APJCP.2013.14.6.3861
26. Mandegary A, Rostami S, Alimoghaddam K, Ghavamzadeh A, Ghahremani MH. Gluthatione-S-transferase T1 null genotype predisposes adults to acute promyelocyticleukemia; a case-kontrol study. Asian Pac J Cancer Prev 2011;12(5):1279-82.
27. Al-Achkar W, Azeiz G, Moassass F, Wafa A. Influence of CYP1A1, GST polymorphisms and susceptibility risk of chronic myeloid leukemia in Syrian population. Med Oncol 2014;31(5):889. https://doi.org/10.1007/s12032-014-0889-4
28. Naffa RG, Awidi AS, Yousef AM, Ismail SI. CYP1AI, glutathione S-transferase gene polymorphisms and risk of Polycythemia vera. Cancer Epidemiol 2012;36(1):68-72. https://doi.org/10.1016/j.canep.2011.05.001
29. He HR, You HS, Sun JY, Hu SS, Ma Y, Dong YL, et al. Glutathione S-transferase gene polymorphisms and susceptibility to acute myeloid leukemia: Meta-analyses. Jpn J Clin Oncol 2014;44(11):1070-81. https://doi.org/10.1093/jjco/hyu121
30. Tang ZH, Zhang C, Cheng P, Sun HM, Jin Y, Chen YJ, et al. Glutathione-S-transferase polymorphisms (GSTM1, GSTT1 and GSTP1) and acute leukemia risk in Asians: A meta-analysis. Asian Pac J Cancer Prev 2014;15(5):2075-81. https://doi.org/10.7314/APJCP.2014.15.5.2075
31. Streiff MB, Smith B, Spivak JL. The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: A survey of American Society of Hematology members’practice patterns. Blood 2002;99:1144-9. https://doi. org/10.1182/blood.V99.4.1144
32. Ferrant A. What clinical and laboratory data are indicative of polycythemia and when are blood volume studies needed? Nouv Rev Fr Hematol 1994;36:151
33. Rosendaal FR. Risk factors for venous thrombosis: Prevalence, risk, and interaction. Semin Hematol 1997;34(3):171-87.

APA	Topak A, Gorukmez O, gorukmez o, ozemri sag s, Sahinturk S, Yakut T, Türe M (2023). Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. , 65 - 72. 10.5578/llm.20239804
Chicago	Topak Ali,Gorukmez Ozlem,gorukmez orhan,ozemri sag sebnem,Sahinturk Serdar,Yakut Tahsin,Türe Mehmet Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. (2023): 65 - 72. 10.5578/llm.20239804
MLA	Topak Ali,Gorukmez Ozlem,gorukmez orhan,ozemri sag sebnem,Sahinturk Serdar,Yakut Tahsin,Türe Mehmet Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. , 2023, ss.65 - 72. 10.5578/llm.20239804
AMA	Topak A,Gorukmez O,gorukmez o,ozemri sag s,Sahinturk S,Yakut T,Türe M Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. . 2023; 65 - 72. 10.5578/llm.20239804
Vancouver	Topak A,Gorukmez O,gorukmez o,ozemri sag s,Sahinturk S,Yakut T,Türe M Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. . 2023; 65 - 72. 10.5578/llm.20239804
IEEE	Topak A,Gorukmez O,gorukmez o,ozemri sag s,Sahinturk S,Yakut T,Türe M "Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık." , ss.65 - 72, 2023. 10.5578/llm.20239804
ISNAD	Topak, Ali vd. "Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık". (2023), 65-72. https://doi.org/10.5578/llm.20239804

APA	Topak A, Gorukmez O, gorukmez o, ozemri sag s, Sahinturk S, Yakut T, Türe M (2023). Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları, 7(2), 65 - 72. 10.5578/llm.20239804
Chicago	Topak Ali,Gorukmez Ozlem,gorukmez orhan,ozemri sag sebnem,Sahinturk Serdar,Yakut Tahsin,Türe Mehmet Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları 7, no.2 (2023): 65 - 72. 10.5578/llm.20239804
MLA	Topak Ali,Gorukmez Ozlem,gorukmez orhan,ozemri sag sebnem,Sahinturk Serdar,Yakut Tahsin,Türe Mehmet Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları, vol.7, no.2, 2023, ss.65 - 72. 10.5578/llm.20239804
AMA	Topak A,Gorukmez O,gorukmez o,ozemri sag s,Sahinturk S,Yakut T,Türe M Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları. 2023; 7(2): 65 - 72. 10.5578/llm.20239804
Vancouver	Topak A,Gorukmez O,gorukmez o,ozemri sag s,Sahinturk S,Yakut T,Türe M Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık. Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları. 2023; 7(2): 65 - 72. 10.5578/llm.20239804
IEEE	Topak A,Gorukmez O,gorukmez o,ozemri sag s,Sahinturk S,Yakut T,Türe M "Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık." Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları, 7, ss.65 - 72, 2023. 10.5578/llm.20239804
ISNAD	Topak, Ali vd. "Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık". Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları 7/2 (2023), 65-72. https://doi.org/10.5578/llm.20239804