Enhancer of zeste 2 polycomb repressive complex 2 subunit polymorphisms in melanoma skin cancer risk.
Adult
Aged
Alleles
Case-Control Studies
Cell Line, Tumor
Enhancer of Zeste Homolog 2 Protein
/ genetics
Female
Gene Expression Regulation
/ genetics
Genetic Predisposition to Disease
/ genetics
HEK293 Cells
HaCaT Cells
Haplotypes
Humans
Male
Melanoma
/ genetics
Middle Aged
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Risk Factors
Skin Neoplasms
/ genetics
DNA polymorphisms
functional SNP
haplotypes
predisposition
transient transfection
Journal
Experimental dermatology
ISSN: 1600-0625
Titre abrégé: Exp Dermatol
Pays: Denmark
ID NLM: 9301549
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
03
06
2020
revised:
29
07
2020
accepted:
30
07
2020
pubmed:
5
8
2020
medline:
26
10
2021
entrez:
5
8
2020
Statut:
ppublish
Résumé
Melanoma is the most deadly skin cancer, and its incidence is growing. EZH2, a member of the Polycomb Group (PcGs) proteins family, plays an important biological role in the occurrence and development of melanoma. EZH2 germline genetic polymorphisms have not been yet evaluated in melanoma predisposition. Three hundred thirty sporadic Italian melanoma patients and 333 healthy volunteers were genotyped to analyse the association between EZH2 variants rs6950683, rs2302427, rs3757441, rs2072408 and melanoma risk. The functionality of rs6950683 alleles was investigated in keratinocytes (HaCat), melanoma cells (A375) and human embryonic kidney cells (HEK293), using promoter-reporter assays. Genotype distribution of SNPs showed that rs6950683T and rs3757441C alleles were positively associated with melanoma risk (P = .003 and .004, respectively). Haplotype analysis revealed that TCCA and CCCG haplotypes were associated with a higher risk of melanoma (P = .02 and .04, respectively). Functional assays demonstrated that allele rs6950683T reduce promoter activity in the three cell lines analysed compared to C allele. rs6950683T and rs3757441C alleles in the EZH2 gene appear positively associated with melanoma risk in the analysed population. In addition, we demonstrated for the first time the functional role of rs6950683 upstream polymorphism on EZH2 gene expression regulation.
Substances chimiques
Enhancer of Zeste Homolog 2 Protein
EC 2.1.1.43
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
980-986Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
B. Domingues, J. Lopes, P. Soares, H. Populo, ImmunoTargets Ther 2018, 7, 35.
B. Moran, R. Silva, A. S. Perry, W. M. Gallagher, Semin. Cancer Biol 2018, 51, 80.
Y. Sang, Y. Deng, Dermatol Ther 2019, 32, e12964. https://doi.org/10.1111/dth.12964
M. Katoh, Epigenomics 2016, 8, 285.
S.- L.-K. Au, I.- O.-L. Ng, C.-M. Wong, Epigenetics and cancer 33, Springer, The Netherlands, 2013
P. Völkel, B. Dupret, X. Le Bourhis, P.-O. Angrand, Am J Transl Res 2015, 7, 175.
J. Tiffen, S. Wilson, S. J. Gallagher, P. Hersey, F. V. Filipp, Neoplasia 2016, 18, 121.
D. Zingg, J. Debbache, S. M. Schaefer, E. Tuncer, S. C. Frommel, P. Cheng, N. Arenas-Ramirez, J. Haeusel, Y. Zhang, M. Bonalli, M. T. McCabe, C. L. Creasy, M. P. Levesque, O. Boyman, R. Santoro, O. Shakhova, R. Dummer, L. Sommer, Nat Commun 2015, 6, 6051.
I. A. Asangani, L. D. Harms, M. Pandhi, L. P. Kunju, C. A. Maher, D. R. Fullen, T. M. Johnson, T. J. Giordano, N. Palanisamy, A. M. Chinnaiyan, Oncotarget 2012, 3, 1011.
H. Agherbi, A. Gaussmann-Wenger, C. Verthuy, L. Chasson, M. Serrano, M. Djabali, PLoS One 2009, 4, e5622.
T. Fan, S. Jiang, N. Chung, A. Alikhan, C. Ni, C. C. Lee, T. J. Hornyak, Mol Cancer Res 2011, 9, 418.
E. Viré, C. Brenner, R. Deplus, L. Blanchon, M. Fraga, C. Didelot, L. Morey, A. Van Eynde, D. Bernard, J. -M. Vanderwinden, M. Bollen, M. Esteller, L. Di Croce, Y. de Launoit, F. Fuks, Nature 2006, 439, 871.
J. C. Tiffen, D. Gunatilake, S. J. Gallagher, K. Gowrishankar, A. Heinemann, C. Cullinane, K. Dutton-Regester, G. M. Pupo, D. Strbenac, J. Y. Yang, J. Madore, G. J. Mann, N. K. Hayward, G. A. McArthur, F. V. Filipp, P. Hersey, Oncotarget 2015, 6, 27023.
W. Sun, S. Lv, H. Li, W. Cui, L. Wang, Genes 2018, 9, 633.
A. A. Emran, A. Chatterjee, E. J. Rodger, J. C. Tiffen, S. J. Gallagher, M. R. Eccles,P. Hersey, Trends Immunol 2019, 40, 328.
C. S. Manning, S. Hooper, E. A. Sahai, Oncogene 2015, 34, 4320.
M. E. Fane, Y. Chhabra, D. E. J. Hollingsworth, J. L. Simmons, L. Spoerri, T. G. Oh, J. Chauhan, T. Chin, L. Harris, T. J. Harvey, G. E. O. Muscat, C. R. Goding, R. A. Sturm, N. K. Haass, G. M. Boyle, M. Piper, A. G. Smith, EBioMedicine 2017, 16, 63.
D. Zingg, J. Debbache, R. Peña-Hernández, A. T. Antunes, S. M. Schaefer, P. F. Cheng, D. Zimmerli, J. Haeusel, R. R. Calçada, E. Tuncer, Y. Zhang, R. Bossart, K. -K. Wong, K. Basler, R. Dummer, R. Santoro, M. P. Levesque, L. Sommer, Cancer Cell 2018, 34, 69.
Y.-L. Yu, K. -J. Su, Y. -H. Hsieh, H. -L. Lee, T. -Y. Chen, P. -C. Hsiao, S. -F. Yang, PLoS One 2013, 8, e74870.
S. Li, S. Sun, S. Yu, Z. Dong, K. Jiang, L. Xiang, H. Li, Clin Lab 2018, 64, 85.
Y.-L. Yu, K. -J. Su, M. -J. Hsieh, S. -S. Wang, P. -H. Wang, W. -C. Weng, S. -F. Yang, PLoS One 2014, 9, e93635.
B. Sun, Y. Lin, X. Wang, F. Lan, Y. Yinghao, Q. Huang, Clin Lab 2016, 62, 2099.
Z. Ling, Z. You, L. Hu, L. Zhang, Y. Wang, M. Zhang, G. Zhang, S. Chen, B. Xu, M. Chen, Onco Targets Ther 2018, 11, 851.
W. Tang, J. Zhou, H. Sun, H. Yun, J. Zhou, Y. Yao, Q. Wang, H. Cao, H. Wang, Chemother Open Access 2018, 7, 1.
E. Orlandi, C. Zanot, A. Poli, M. Nicolis, M. Rodolfo, A. Turco, A. Sangalli, M. Gomez-Lira, Melanoma Res 2019, 29, 660.
D. Fujikawa, S. Nakagawa, M. Hori, N. Kurokawa, A. Soejima, K. Nakano, T. Yamochi, M. Nakashima, S. Kobayashi, Y. Tanaka, M. Iwanaga, A. Utsunomiya, K. Uchimaru, M. Yamagishi, T. Watanabe, Blood 2016, 127, 1790.
M. G. Romanelli, P. Lorenzi, A. Sangalli, E. Diani, M. Mottes, Genomics 2009, 93, 227.
J. E. Gershenwald, R. A. Scolyer, K. R. Hess, V. K. Sondak, G. V. Long, M. I. Ross, A. J. Lazar, M. B. Faries, J. M. Kirkwood, G. A. McArthur, L. E. Haydu, A. M. M. Eggermont, K. T. Flaherty, C. M. Balch, J. F. Thompson; for members of the American Joint Committee on Cancer Melanoma Expert Panel and the International Melanoma Database and Discovery Platform, CA Cancer J Clin 2017, 67, 472.
A. Auton, L. D. Brooks, R. M. Durbin, P. Erik, Nature 2015, 526, 68.
Y. Y. Shi, L. He, Cell Res 2005, 15, 97.
K. A. Yoon, H. J. Gil, J. Han, J. Park, J. S. Lee, J Thorac Oncol 2010, 5, 10.
K.-J. Su, C.-W. Lin, M.-K. Chen, S.-F. Yang, Y.-L. Yu, Am J Cancer Res 2015, 5, 3475.
G. M. De Donatis, E. l Pape, A. Pierron, Y. Cheli, V. Hofman, P. Hofman, M. Allegra, K. Zahaf, P. Bahadoran, S. Rocchi, C. Bertolotto, R. Ballotti, T. Passeron, Oncogene 2016, 35, 2735.
R. Vaz-Drago, N. Custódio, M. Carmo-Fonseca, Hum. Genet. 2017, 136, 1093.
C. Do, A. Shearer, M. Suzuki, M. B. Terry, J. Gelernter, J. M. Greally, B. Tycko, Genome Biol 2017, 18, 120.