Vztah mezi polymorfismem XPG rs17655G>C a XPF rs1799801T>C a náchylností k malignímu melanomu kůže: důkazy ze studie případů a kontrol, systematický přehled a metaanalýza

Download PDF English version

Authors: Niktabar Mohammadreza Seyed ¹; Dastgheib Alireza Seyed ²; Heiranizadeh Naeimeh ¹; Kargar Saeed ¹; Raee-Ezzabadi Ali ³; Jarahzadeh Hossein Mohammad ⁴; Miresmaeili Mohsen Seyed ⁵; Zare-Shehneh Masoud ⁶; Neamatzadeh Hossein ^6,7
Authors‘ workplace: Department of General Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ¹; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran ²; Department of Emergency Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ³; Department of Anesthesiology and Critical Care, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ⁴; Department of Biology, Science and Arts University, Yazd, Iran ⁵; Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ⁶; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ⁷
Published in: Klin Onkol 2020; 33(3): 184-194
Category:
doi: https://doi.org/10.14735/amko2020184

Overview

Východiska: Předchozí studie ukázaly souvislost mezi polymorfizmem XPG rs17655G>C a XPF rs1799801T>C a rizikem maligního melanomu kůže (cutaneous malignant melanoma – CMM). Jejich výsledky jsou ale nekonzistentní nebo dokonce protichůdné. Cílem této metaanalýzy bylo tedy vyhodnotit souvislost polymorfizmu XPG rs17655G> C a XPF rs1799801T> C s rizikem CMM.

Metody: Do 15. října 2019 bylo provedeno komplexní vyhledávání literatury v databázích PubMed, Web of Science, Scopus, SciELO a CNKI s cílem identifikovat relevantní studie. Kromě toho byla provedena studie případů a kontrol s cílem vyhodnotit souvislost XPF rs1799801T> C s rizikem CMM v íránské populaci. Pro odhad síly souvislostí byly použity hodnoty odds ratio (OR) a 95% intervalu spolehlivosti (CI).

Výsledky: Bylo vybráno celkem 12 studií, a to 9 studií zabývajících se XPG rs17655G> C s 5 362 případy a 7 195 kontrolami a 3 studie zabývající se XPF rs1799801T> C s 803 CMM případy a 737 kontrolami. Souhrnné údaje svědčily o tom, že v modelu heterozygotů byl polymorfizmus XPF rs1799801T> C významně spojen se zvýšeným rizikem CMM (CT vs. TT: OR = 1,313, 95% CI 1,062–1 624; p = 0,012). Nicméně v celkové populaci a ve skupinách podle etnické příslušnosti nebyl polymorfizmus XPG rs17655G> C významně spojen s rizikem CMM. Analýza podskupin ukázala významnou asociaci mezi polymorfizmem XPG rs17655G> C a CMM ve skupině studií, ve kterých byla použita metoda PCR-RFLP.

Závěr: Tato metaanalýza odhalila, že polymorfizmus XPFrs1799801T>C může být rizikovým faktorem pro rozvoj CMM. Nekonzistence našich souhrnných údajů s předchozími metaanalýzami svědčila o tom, že polymorfizmus XPG rs17655G> C není spojen s rizikem CMM.

Klíčová slova:

maligní melanom kůže – XPG – XPF – polymorfizmus – asociace – metaanalýza

Sources

1. Cummins DL, Cummins JM, Pantle H et al. Cutaneous malignant melanoma. Mayo Clinic proceedings 2006; 81 (4): 500–507. doi: 10.4065/81.4.500.

2. Niktabar SM, Latifi SM, Moghimi M et al. Association of vitamin D receptor gene polymorphisms with risk of cutaneous melanoma. A meta-analysis based on 40 case-control studies. Dermatology Review/Przegląd Dermatologiczny 2019; 106 (3): 268–279. doi: 10.5114/dr.2019.86909.

3. Mar VJ, Wong SQ, Li J et al. BRAF/NRAS wild-type melanomas have a high mutation load correlating with histologic and molecular signatures of UV damage. Clin Cancer Res 2013; 19 (17): 4589–4598. doi: 10.1158/1078-0432.CCR-13-0398.

4. von Thaler AK, Kamenisch Y, Berneburg M. The role of ultraviolet radiation in melanomagenesis. Exper Dermatol 2010; 19 (2): 81–88. doi: 10.1111/j.1600 0625.2009.01025.x.

5. Matthews NH, Li W-Q, Qureshi AA et al. Cutaneous Melanoma: Etiology and therapy. Brisbane: Codon Publications 2017: 3–22.

6. Yang K, Fung TT, Nan H. An epidemiological review of diet and cutaneous malignant melanoma. Cancer Epidemiol Biomarkers Prev 2018; 27 (10): 1115–1122. doi: 10.1158/1055-9965.EPI-18-0243.

7. Ali Z, Yousaf N, Larkin J. Melanoma epidemiology, biology and prognosis. EJC Suppl 2013; 11 (2): 81–91. doi: 10.1016/j.ejcsup.2013.07.012.

8. Pollack LA, Li J, Berkowitz Z et al. Melanoma survival in the United States, 1992 to 2005. J Am Acad Dermatol 2011; 65 (Suppl 1): 78–86. doi: 10.1016/j.jaad.2011.05.030.

9. Guy GP, Machlin SR, Ekwueme DU et al. Prevalence and costs of skin cancer treatment in the U.S., 2002–2006 and 2007–2011. Am J Prev Med 2015; 48 (2): 183–187. doi: 10.1016/j.amepre.2014.08.036.

10. Kunz M, Vera J. Modelling of protein kinase signaling pathways in melanoma and other cancers. Cancers (Basel) 2019; 11 (4): E465. doi: 10.3390/cancers11040465.

11. Zhang XY, Zhang PY. Genetics and epigenetics of melanoma. Oncol Lett 2016; 12 (5): 3041–3044. doi: 10.3892/ol.2016.5093.

12. Muñoz-Couselo E, Adelantado EZ, Ortiz C et al. NRAS-mutant melanoma: Current challenges and future prospect. OncoTargets Ther 2017; 10: 3941–3947. doi: 10.2147/OTT.S117121.

13. Griewank KG, Murali R, Puig-Butille JA et al. TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma. J Natl Cancer Inst 2014; 106 (9): 246. doi: 10.1093/jnci/dju246.

14. Leão R, Apolónio JD, Lee D et al. Mechanisms of human telomerase reverse transcriptase (hTERT) regulation: Clinical impacts in cancer. J Biomed Sci 2018; 25 (1): 22. doi: 10.1186/s12929-018-0422-8.

15. Eckerle Mize D, Bishop M, Resse E et al. Familial atypical multiple mole melanoma syndrome in cancer syndromes. In: Riegert-Johnson DL, Boardman LA, Hefferon T (eds) Cancer syndromes online. Available from: https: //www.ncbi.nlm.nih.gov/pubmed/21249754.

16. Murray HC, Maltby VE, Smith DW et al. Nucleotide excision repair deficiency in melanoma in response to UVA. Exp Hemat Oncol 2015; 5: 6. doi: 10.1186/s40164-016-0035-4.

17. Mehdinejad M, Sobhan MR, Mazaheri M et al. Genetic association between ERCC2, NBN, RAD51 gene variants and osteosarcoma risk: a systematic review and meta--analysis. Asian Pac J Cancer Prev 2017; 18 (5): 1315–1321. doi: 10.22034/APJCP.2017.18.5.1315.

18. Zhao J, Chen S, Zhou H et al. XPG rs17655 G>C polymorphism associated with cancer risk: Evidence from 60 studies. Aging 2018; 10 (5): 1073–1088. doi: 10.18632/aging.101448.

19. Zhu ML, Wang M, Cao ZG et al. Association between the ERCC5 Asp1104His polymorphism and cancer risk: A meta-analysis. PLoS ONE 2012; 7 (7): e36293. doi: 10.1371/journal.pone.0036293.

20. Zhang Z, Yin J, Xu Q et al. Association between the XPG gene rs2094258 polymorphism and risk of gastric cancer. J Clin Lab Anal 2018, 32 (8): e22564. doi: 10.22034/APJCP.2017.18.10.2611.

21. Namazi A, Forat-Yazdi M, Jafari MA et al. Association between polymorphisms of ERCC5 gene and susceptibility to gastric cancer: a systematic review and meta-analysis. Asian Pacific J Cancer Prev 2017; 18 (10): 2611–2617. doi: 10.22034/APJCP.2017.18.10.2611.

22. Manandhar M, Boulware KS, Wood RD. The ERCC1 and ERCC4 (XPF) genes and gene products. Gene 2015; 569 (2): 153–161. doi: 10.1016/j.gene.2015.06.026.

23. Liu J, Zheng B, Li Y et al. Genetic polymorphisms of DNA repair pathways in sporadic colorectal carcinogenesis. J Cancer 2019; 10 (6): 1417–1433. doi: 10.7150/jca.28406.

24. Paszkowska-Szczur K, Scott RJ, Serrano-Fernandez P et al. Xeroderma pigmentosum genes and melanoma risk. Int J Cancer 2013; 133 (5): 1094–1100. doi: 10.1002/ijc.28123.

25. Povey JE, Darakhshan F, Robertson K et al. DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma. Carcinogenesis 2007; 28 (5): 1087–1093. doi: 10.1093/carcin/bgl257.

26. Oliveira C, Rinck-Junior JA, Lourenço GJ et al. Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. J Cancer Res Clin Oncol 2013; 139 (7): 1199–1206. doi: 10.1007/s00432-013-1430-4.

27. Blankenburg S, König IR, Moessner R et al. Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case–control study. Carcinogenesis 2005; 26 (6): 1085–1090. doi: 10.1093/carcin/bgi055.

28. Li C, Hu Z, Liu Z et al. Polymorphisms in the DNA Repair Genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis. Cancer Epidemiol Biomarkers Prev 2006; 15 (12): 2526–2532. doi: 10.1158/1055-9965.EPI-06-0672.

29. Millikan RC, Hummer A, Begg C et al. Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the genes environment and melanoma study. Carcinogenesis 2006; 27 (3): 610–618. doi: 10.1093/carcin/bgi252.

30. Figl A, Scherer D, Nagore E et al. Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma. Mutat Res 2010; 702 (1): 8–16. doi: 10.1016/j.mrgentox.2010.06.011.

31. Ibarrola-Villava M, Peña-Chilet M, Fernandez LP et al. Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility. Eur J Cancer 2011; 47 (17): 2618–2625. doi: 10.1016/j.ejca.2011.05.011.

32. GPaPonçalves FT, Francisco G, de Souza SP et al. European ancestry and polymorphisms in DNA repair genes modify the risk of melanoma: A case–control study in a high UV index region in Brazil. J Dermatol Sci 2011; 64 (1): 59–66. doi: 10.1016/j.jdermsci.2011.06.003.

33. Xu Y, Jiao G, Wei L et al. Current evidences on the XPG Asp1104His polymorphism and melanoma susceptibility: a meta-analysis based on case–control studies. Mol Genet Genomics 2014; 290 (1): 273–279. doi: 10.1007/s00438-014-0917-2.

34. Moghimi M, Ahrar H, Karimi-Zarchi M et al. Association of IL-10 rs1800871 and rs1800872 polymorphisms with breast cancer risk: A systematic review and meta-analysis. Asian Pac J Cancer Prev 2018; 19 (12): 3353–3359. doi: 10.31557/APJCP.2018.19.12.3353.

35. Moghimi M, Kargar S, Jafari MA et al. Angiotensin converting enzyme insertion/deletion polymorphism is associated with breast cancer risk: a meta-analysis. Asian Pac J Cancer Prev 2018; 19 (11): 3225–3231. doi: 10.31557/APJCP.2018.19.11.3225.

36. Moghimi M, Sobhan MR, Jarahzadeh MH et al. Association of GSTM1, GSTT1, GSTM3, and GSTP1 genes polymorphisms with susceptibility to osteosarcoma: a case-control study and meta-analysis. Asian Pac J Cancer Prev 2019; 20 (3): 675–682. doi: 10.31557/APJCP.2019.20.3.675.

37. Aflatoonian M, Moghimi M, Akbarian-Bafghi MJ et al.Association of TNF-a-308G>A polymorphism with susceptibility to celiac disease: a systematic review and meta-analysis. Arquivos de gastroenterologia 2019; 56 (1): 88–94. doi: 10.1590/S0004-2803.201900000-20.