Türk popülasyonunda glutatyon S-transferaz A1 rs3957357 polimorfizm sıklıkları

Abstract

Amaç: Faz II enzimlerinin önemli bir enzim grubu olan glutatyon-S-transferazlar (GST), endojen ve eksojen bileşiklerin detoksifikasyonunda ve metabolizmasında önemli bir rol oynar. Bu çalışmanın amacı, sağlıklı bir Türk popülasyonunda GSTA1 -69C>T (rs3957357) polimorfizminin frekanslarının dağılımını belirlemektir. Ayrıca, tespit edilen frekansları çeşitli popülasyonlardaki frekanslarla karşılaştırmaktı. Yöntemler: Polimeraz zincir reaksiyonu ve restriksiyon parça uzunluk polimorfizm yöntemleri, 105 sağlıklı Türk bireylerin DNA örneklerinde GSTA1 -69C>T polimorfizmini analiz etmek için kullanıldı. Bulgular: GSTA1 CC, CT ve TT genotip frekanslarının dağılımı sırasıyla % 32.4, 48.6 ve 19.0 olup allel frekansları C alleli için % 56.7 ve T alleli için % 43.3 idi. Elde edilen bulgular çeşitli popülasyonların sonuçlarıyla karşılaştırıldı. GSTA1 -69C>T polimorfizminin sıklıkları Amerikan-Afrikan popülasyonuna ve Beyaz kökenli popülasyonlara benzerdir, ancak Asya kökenli popülasyonlar için bildirilen sıklıklardan önemli ölçüde farklıydı. Sonuç: Bilindiği kadarıyla Türk bireylerinde GSTA1 -69C> T polimorfizminin frekanslarını ortaya koyan ilk çalışmadır. Mevcut çalışmanın bulguları, GSTA1 -69C> T polimorfizminin kanser gibi çeşitli hastalıklara yatkınlık üzerindeki rolünü araştıran daha ileri çalışmalar için bakış açısı sağlayabilir ve ayrıca bu tür çalışmalar için kontrol grubu olarak kullanılabilir. Bunların yanı sıra, bu çalışma epidemiyolojik ve toksikogenetik araştırmalara da katkı sağlayabilir.

Keywords

• Glutatyon S-transferazlar
• GSTA1
• rs3957357
• Polimorfizm
• Türk popülasyonu

Frequencies of glutathione S-transferase A1 rs3957357 polymorphism in a Turkish population

Abstract

Background/Aim: Glutathione-S-transferases (GSTs), a major group of phase II enzymes, play a significant role in the detoxification and metabolism of endogenous and exogenous compounds. The objective of the survey was to identify the distribution of genotype and allele frequencies of GSTA1 -69C>T (rs3957357) polymorphism in a healthy Turkish population and compare the determined frequencies with those in various populations. Methods: Polymerase chain reaction and restriction fragment length polymorphism methods were used to analyze GSTA1 -69C>T polymorphism in DNA samples of 105 healthy Turkish individuals. Results: The distribution of GSTA1 CC, CT, and TT genotype frequencies were 32.4%, 48.6% and 19.0%, respectively while the allele frequencies were 56.7% for C allele and 43.3% for T allele. The findings obtained were compared with the results of various populations. The frequencies of GSTA1 -69C>T polymorphism were similar to those of the African American population and the populations with White ancestry, but significantly different from those reported for the populations with Asian ancestry. Conclusion: To the best of our knowledge, this is the first study to present the frequencies of the GSTA1 -69C>T polymorphism among Turkish individuals. The findings of the current study may provide a perspective for further studies exploring the role of GSTA1 -69C>T polymorphism on predisposition to diverse illnesses such as cancer and may be used as a control group for such studies. In addition, this study might contribute to epidemiological and toxicogenetic investigations.

Keywords

• Glutathione S-transferases
• GSTA1
• rs3957357
• Polymorphism
• Turkish population

References

1. 1. Skrzypczak-Zielinska M, Zakerska-Banaszak O, Tamowicz B, Sobieraj I, Drweska-Matelska N, Szalata M, et al. Polymorphisms and allele frequencies of glutathione S-transferases A1 and P1 genes in the Polish population. Genet Mol Res. 2015;14(1):2850-9.
2. 2. Silva SN, Azevedo AP, Teixeira V, Pina JE, Rueff J, Gaspar JF. The role of GSTA2 polymorphisms and haplotypes in breast cancer susceptibility: a case-control study in the Portuguese population. Oncol Rep. 2009;22(3):593-8.
3. 3. Ercegovac M, Jovic N, Sokic D, Savic-Radojevic A, Coric V, Radic T, et al. GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. Seizure. 2015;32:30-6.
4. 4. Ping J, Wang H, Huang M, Liu ZS. Genetic analysis of glutathione S-transferase A1 polymorphism in the Chinese population and the influence of genotype on enzymatic properties. Toxicol Sci. 2006;89(2):438-43.
5. 5. Yu G, Yang Q, Zhang G, Xie Y, Zhang L. Polymorphism analysis of glutathione S-transferase A1 in patients with hematological diseases and its effect on GST enzyme activity. J Chin Pharm Sci. 2019;28(6):393–401.
6. 6. Reszka E, Jablonowski Z, Wieczorek E, Jablonska E, Krol MB, Gromadzinska J, et al. Polymorphisms of NRF2 and NRF2 target genes in urinary bladder cancer patients. J Cancer Res Clin Oncol. 2014;140(10):1723-31.
7. 7. Dura P, Salomon J, Te Morsche RH, Roelofs HM, Kristinsson JO, Wobbes T, et al. No role for glutathione S-transferase genotypes in Caucasian esophageal squamous cell or adenocarcinoma etiology: an European case-control study. BMC Gastroenterol. 2013;13:97. doi: 10.1186/1471-230X-13-97.
8. 8. Coles BF, Morel F, Rauch C, Huber WW, Yang M, Teitel CH, et al. Effect of polymorphism in the human glutathione S-transferase A1 promoter on hepatic GSTA1 and GSTA2 expression. Pharmacogenetics 2001;11(8):663–9.

9. 9. 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(1):17. doi: 10.1186/2047-783X-17-17.
10. 10. Liu C, Song S, Zhang J, Li X, Gao H. Effects of GSTA1 and GPX3 polymorphisms on the risk of schizophrenia in Chinese Han Population. Neuropsychiatr Dis Treat. 2020;16:113-8.
11. 11. Pan S, Yang X, Yang L, Wei Q, Yang Y, Xu G, et al. Human GSTs polymorphisms in the Hakka population of south China and their associations with family history of several chronic diseases. Biomed Environ Sci. 2011;24(5):491-8.
12. 12. Ben Salah G, Kallabi F, Maatoug S, Mkaouar-Rebai E, Fourati A, Fakhfakh F, et al. Polymorphisms of glutathione S-transferases M1, T1, P1 and A1 genes in the Tunisian population: an intra and interethnic comparative approach. Gene. 2012;498(2):317-22.
13. 13. Matic M, Pekmezovic T, Djukic T, Mimic-Oka J, Dragicevic D, Krivic B, et al. GSTA1, GSTM1, GSTP1, and GSTT1 polymorphisms and susceptibility to smoking-related bladder cancer: a case-control study. Urol Oncol. 2013;31(7):1184-92.
14. 14. Ning B, Wang C, Morel F, Nowell S, Ratnasinghe DL, Carter W, et al. Human glutathione S-transferase A2 polymorphisms: variant expression, distribution in prostate cancer cases/controls and a novel form. Pharmacogenetics. 2004;14(1):35-44.
15. 15. Olsen A, Autrup H, Sørensen M, Overvad K, Tjønneland A. Polymorphisms of glutathione S-transferase A1 and O1 and breast cancer among postmenopausal Danish women. Eur J Cancer Prev. 2008;17(3):225-9.
16. 16. Eichholzer M, Rohrmann S, Barbir A, Hermann S, Teucher B, Kaaks R, et al. Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk. Int J Mol Epidemiol Genet. 2012;3(2):96-106.
17. 17. van der Logt EM, Bergevoet SM, Roelofs HM, van Hooijdonk Z, te Morsche RH, Wobbes T, et al. Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk. Carcinogenesis. 2004;25(12):2407-15.
18. 18. Iorio A, Spinelli M, Polimanti R, Lorenzi F, Valensise H, Manfellotto D, et al. GSTA1 gene variation associated with gestational hypertension and its involvement in pregnancy-related pathogenic conditions. Eur J Obstet Gynecol Reprod Biol. 2015;194:34-7.
19. 19. Khrunin AV, Moisseev A, Gorbunova V, Limborska S. Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. Pharmacogenomics J. 2010;10(1):54-61.
20. 20. Zong C, Sha Y, Xiang H, Wang J, Chen D, Liu J, et al. Glutathione S-transferase A1 polymorphism and the risk of recurrent spontaneous abortion in Chinese Han population. J Assist Reprod Genet. 2014;31(3):379-82.
21. 21. Settheetham-Ishida W, Wongpratate M, Phuthong S, Natphopsuk S, Ishida T. Genetic polymorphism of glutathione S-transferase and cervical cancer susceptibility in Northeastern Thailand. Asian Pac J Cancer Biol. 2020;5(2): 35-41.
22. 22. Tsai JP, Yang SF, Wu SW, Hung TW, Tsai HC, Lian JD, et al. Glutathione S-transferase gene polymorphisms are not major risks for susceptibility to posttransplantation diabetes mellitus in Taiwan renal transplant recipients. J Clin Lab Anal. 2011;25(6):432-5.
23. 23. Chen MK, Tsai HT, Chung TT, Su SC, Kao TY, Tseng HC, et al. Glutathione S-transferase P1 and alpha gene variants; role in susceptibility and tumor size development of oral cancer. Head Neck. 2010;32(8):1079-87.
24. 24. Matsuno K, Kubota T, Matsukura Y, Ishikawa H, Iga T. Genetic analysis of glutathione S-transferase A1 and T1 polymorphisms in a Japanese population. Clin Chem Lab Med. 2004;42(5):560-2.
25. 25. Komiya Y, Tsukino H, Nakao H, Kuroda Y, Imai H, Katoh T. Human glutathione S-transferase A1, T1, M1, and P1 polymorphisms and susceptibility to prostate cancer in the Japanese population. J Cancer Res Clin Oncol. 2005;131(4):238-42.
26. 26. Sweeney C, Ambrosone CB, Joseph L, Stone A, Hutchins LF, Kadlubar FF, et al. Association between a glutathione S-transferase A1 promoter polymorphism and survival after breast cancer treatment. Int J Cancer 2003;103(6):810–4.
27. 27. Rossi D, Rasi S, Franceschetti S, Capello D, Castelli A, De Paoli L, et al. Analysis of the host pharmacogenetic background for prediction of outcome and toxicity in diffuse large B-cell lymphoma treated with R-CHOP21. Leukemia. 2009;23(6):1118-26.
28. 28. Akhdar H, El Shamieh S, Musso O, Désert R, Joumaa W, Guyader D, et al. The rs3957357C>T SNP in GSTA1 is associated with a higher risk of occurrence of hepatocellular carcinoma in European individuals. PLoS One. 2016;11(12): e0167543. doi:10.1371/journal.pone.0167543
29. 29. Deng Q, He B, Pan Y, Sun H, Liu X, Chen J, et al. Polymorphisms of GSTA1 contribute to elevated cancer risk: evidence from 15 studies. J BUON. 2015;20(1):287-95.
30. 30. Uckun Sahinogullari Z. Cytochrome P450 2A13 3375C