A gene-disease association study of IL18 in thyroid cancer: genotype and haplotype analyses

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• 作者：Farzan Abdolahi ; Mohammad Hossein Dabbaghmanesh ; Mohammad Reza Haghshenas…
• 关键词：Thyroid cancer ; IL ; 18 ; Polymorphism ; Haplotype
• 刊名：Endocrine
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：50
• 期：3
• 页码：698-707
• 全文大小：449 KB
• 参考文献：1.J. Ferlay, H.R. Shin, F. Bray, D. Forman, C. Mathers, D.M. Parkin, Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int. J. Cancer 127(12), 2893-917 (2010). doi:10.-002/?ijc.-5516 CrossRef PubMed
  2.E.G. Grubbs, T.A. Rich, G. Li, E.M. Sturgis, M.N. Younes, J.N. Myers, B. Edeiken-Monroe, B.D. Fornage, D.P. Monroe, G.A. Staerkel, M.D. Williams, S.G. Waguespack, M.I. Hu, G. Cote, R.F. Gagel, J. Cohen, R.S. Weber, D.A. Anaya, F.C. Holsinger, N.D. Perrier, G.L. Clayman, D.B. Evans, Recent advances in thyroid cancer. Curr. Probl. Surg. 45(3), 156-50 (2008). doi:10.-067/?j.?cpsurg.-007.-2.-10 CrossRef PubMed
  3.Y.E. Nikiforov, D.L. Steward, T.M. Robinson-Smith, B.R. Haugen, J.P. Klopper, Z. Zhu, J.A. Fagin, M. Falciglia, K. Weber, M.N. Nikiforova, Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules. J. Clin. Endocrinol. Metab. 94(6), 2092-098 (2009). doi:10.-210/?jc.-009-0247 CrossRef PubMed
  4.E. Ashouri, M.H. Dabbaghmanesh, S. Rowhanirad, M. Bakhshayeshkaram, G. Ranjbar Omrani, A. Ghaderi, Activating KIR2DS5 receptor is a risk for thyroid cancer. Hum. Immunol. 73(10), 1017-022 (2012). doi:10.-016/?j.?humimm.-012.-7.-25 CrossRef PubMed
  5.H. Okamura, H. Tsutsi, T. Komatsu, M. Yutsudo, A. Hakura, T. Tanimoto, K. Torigoe, T. Okura, Y. Nukada, K. Hattori et al., Cloning of a new cytokine that induces IFN-gamma production by T cells. Nature 378(6552), 88-1 (1995). doi:10.-038/-78088a0 CrossRef PubMed
  6.Y. Takiyama, N. Miyokawa, Y. Tokusashi, K. Ito, S. Kato, S. Kimura, K. Sato, M. Katagiri, Thyroid-stimulating hormone induces interleukin-18 gene expression in FRTL-5 cells: immunohistochemical detection of interleukin-18 in autoimmune thyroid disease. Thyroid 12(11), 935-43 (2002). doi:10.-089/-050725023209082-8 CrossRef PubMed
  7.Z. Liu, H. Wang, W. Xiao, C. Wang, G. Liu, T. Hong, Thyrocyte interleukin-18 expression is up-regulated by interferon-gamma and may contribute to thyroid destruction in Hashimoto’s thyroiditis. Int. J. Exp. Pathol. 91(5), 420-25 (2010). doi:10.-111/?j.-365-2613.-010.-0715.?x PubMedCentral CrossRef PubMed
  8.U. Kalina, K. Ballas, N. Koyama, D. Kauschat, C. Miething, J. Arnemann, H. Martin, D. Hoelzer, O.G. Ottmann, Genomic organization and regulation of the human interleukin-18 gene. Scand. J. Immunol. 52(6), 525-30 (2000)CrossRef PubMed
  9.V. Giedraitis, B. He, W.X. Huang, J. Hillert, Cloning and mutation analysis of the human IL-18 promoter: a possible role of polymorphisms in expression regulation. J. Neuroimmunol. 112(1-), 146-52 (2001)CrossRef PubMed
  10.M.R. Haghshenas, S.V. Hosseini, M. Mahmoudi, M. Saberi-Firozi, S. Farjadian, A. Ghaderi, IL-18 serum level and IL-18 promoter gene polymorphism in Iranian patients with gastrointestinal cancers. J. Gastroenterol. Hepatol. 24(6), 1119-122 (2009). doi:10.-111/?j.-440-1746.-009.-5791.?x CrossRef PubMed
  11.T. Khalili-Azad, M. Razmkhah, A.F. Ghiam, M. Doroudchi, A.R. Talei, Z. Mojtahedi, A. Ghaderi, Association of interleukin-18 gene promoter polymorphisms with breast cancer. Neoplasma 56(1), 22-5 (2009)CrossRef PubMed
  12.A. Farjadfar, Z. Mojtahedi, M.A. Ghayumi, N. Erfani, M.R. Haghshenas, A. Ghaderi, Interleukin-18 promoter polymorphism is associated with lung cancer: a case-control study. Acta Oncol. 48(7), 971-76 (2009). doi:10.-080/-284186090287814- CrossRef PubMed
  13.S.B. Edge, C.C. Compton, The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM. Ann. Surg. Oncol. 17(6), 1471-474 (2010). doi:10.-245/?s10434-010-0985-4 CrossRef PubMed
  14.S.A. Miller, D.D. Dykes, H.F. Polesky, A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16(3), 1215 (1988)PubMedCentral CrossRef PubMed
  15.M. Folwaczny, J. Glas, H.P. Torok, L. Tonenchi, E. Paschos, B. Bauer, O. Limbersky, C. Folwaczny, Polymorphisms of the interleukin-18 gene in periodontitis patients. J. Clin. Periodontol. 32(5), 530-34 (2005). doi:10.-111/?j.-600-051X.-005.-0711.?x CrossRef PubMed
  16.L. Excoffier, G. Laval, S. Schneider, Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol. Bioinform. Online 1, 47-0 (2005)PubMedCentral
  17.J.C. Barrett, B. Fry, J. Maller, M.J. Daly, Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2), 263-65 (2005). doi:10.-093/?bioinformatics/?bth457 CrossRef PubMed
  18.S. Cantara, M. Capezzone, S. Marchisotta, S. Capuano, G. Busonero, P. Toti, A. Di Santo, G. Caruso, A.F. Carli, L. Brilli, A. Montanaro, F. Pacini, Impact of proto-oncogene mutation detection in cytological specimens from thyroid nodules improves the diagnostic accuracy of cytology. J. Clin. Endocrinol. Metab. 95(3), 1365-369 (2010). doi:10.-210/?jc.-009-2103 CrossRef PubMed
  19.K. Nakanishi, T. Yoshimoto, H. Tsutsui, H. Okamura, Interleukin-1
• 作者单位：Farzan Abdolahi (1) (2)
  Mohammad Hossein Dabbaghmanesh (3)
  Mohammad Reza Haghshenas (1)
  Abbas Ghaderi (1)
  Nasrollah Erfani (1)
  
  1. Cancer Immunology Group, Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  2. Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
  3. Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
  
• 刊物主题：Endocrinology; Diabetes; Internal Medicine; Science, general;
• 出版者：Springer US
• ISSN：1559-0100

文摘

Thyroid cancer is the most common malignancy of the endocrine system, and genetic factors have been shown to be associated with its risk. Interleukin-18 (IL-18) is a pleiotropic pro-inflammatory cytokine that induces IFN-γ production and is involved in T helper type 1 development. To determine the role of IL-18 gene in thyroid cancer susceptibility, we conducted a case–control study, and genotyped five single nucleotide polymorphisms (SNPs) in IL-18 gene (?56 G/T (rs1946519), ?07 C/A (rs1946518), and ?37 G/C (rs187238) in the promoter region and +113 T/G (rs360718) and +127 C/T (rs360717) in 5-untranslated region) in 105 patients with thyroid cancer and 148 healthy controls from Iranian population. Polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and allele-specific primer-PCR were used for genotyping. The association of different genotypes with thyroid cancer, tumor type, and the tumor stage was analyzed. Comparing all of the patient population with the controls, TT genotype at position ?56 G/T was observed to be associated with a significantly increased risk of thyroid cancer [31/105 (30.1 %) vs 19/148 (13.1 %), p = 0.002, OR 2.90, CI 1.40-.70]. No association with thyroid cancer was found at other positions (?07 C/A, ?37 G/C, +113 T/G, and +127 C/T). Excluding the patients with medullary carcinoma, and including only the ones with thyroid cancer derived from the follicular epithelium, nearly the same results were observed regarding the genotypes at position ?56 G/T. Furthermore, significantly decreased risk of thyroid cancer derived from the follicular epithelium was observed upon inheritance of the homozygote genotype (CC) at position +127 C/T (40/94 (42.5 %) versus 84/148 (56.8 %) in patients and controls, respectively (OR 0.56, 95 % CI for OR 0.32-.98, p = 0.04). Haplotype analysis indicated that among 32 possible haplotypes, TAGTT haplotype frequency was significantly higher in patients than in controls [12/188 (6.4 %) vs 2/292 (0.7 %), p = 0.0008] and this difference resisted Bonferroni correction (n = 19) and significant level set at 0.003. Nearly the same results were observed after excluding the patients with medullary carcinoma. No association was found between the SNPs and the stage of tumor. Our results suggest the increased susceptibility to thyroid cancer in subjects with TT genotype at position ?56 G/T of the promoter of IL-18 gene, as well as TAGTT haplotype emerged from five studied SNPs in IL-18 gene. The data also suggest that the inheritance of +127 CC genotype may protect individuals from thyroid cancer derived from follicular epithelium. Keywords Thyroid cancer IL-18 Polymorphism Haplotype