Mariana Bonjiorno Martins1, Fernando de Assis Batista2, Natassia Elena Bufalo2, Karina Colombera Peres2, Murilo Meneghetti2, Ligia Vera Montali da Assumpção3, Laura Sterian Ward2. 1. Laboratory of Cancer Molecular Genetics, School of Medical Sciences (FCM), University of Campinas (Unicamp), 126, Tessália Vieira de Camargo St., Campinas, SP, Brazil. mbonjiorno@gmail.com. 2. Laboratory of Cancer Molecular Genetics, School of Medical Sciences (FCM), University of Campinas (Unicamp), 126, Tessália Vieira de Camargo St., Campinas, SP, Brazil. 3. Division of Endocrinology, Department of Medicine, Faculty of Medical Sciences-University of Campinas (Unicamp), 251, Vital Brazil St., Campinas, SP, Brazil.
Abstract
BACKGROUND: IL-4 is known to present abnormal expression in thyroid tumors and SNPs in the IL-4 and its receptor IL-4R genes are associated to risk and mortality of various types of cancer. METHODS: In order to evaluate their role in differentiated thyroid cancer (DTC), we investigated genetic frequencies of two IL-4 promoter SNPs (rs2070874 C>T, rs2243250 C>T) and four non-synonymous SNPs of the IL-4R gene (rs1805010 A>G, rs1805012 C>T, rs1805013 C>T, rs1801275 A>G) in 300 DTC patients matched to 300 controls. All patients were managed according to current guidelines and followed-up for a period of 12-252 months (69.20 ± 52.70 months). RESULTS: Although none of the six investigated SNPs showed association with risk of DTC, rs1805010 was associated with age of diagnosis and the SNPs rs1805012 and rs1801275 were associated to gender. Further, in-silico analysis showed that all these three SNPs were able to cause decreased stability of the protein. We were not able to demonstrate any other association to clinical features of aggressiveness or to patients' prognosis. CONCLUSIONS: These findings indicate that although genetic variants in IL-4 and IL-4R do not influence the risk or outcome of DTC patients, their influence on the behavior of thyroid tumors deserves further investigation.
BACKGROUND: IL-4 is known to present abnormal expression in thyroid tumors and SNPs in the IL-4 and its receptor IL-4R genes are associated to risk and mortality of various types of cancer. METHODS: In order to evaluate their role in differentiated thyroid cancer (DTC), we investigated genetic frequencies of two IL-4 promoter SNPs (rs2070874 C>T, rs2243250 C>T) and four non-synonymous SNPs of the IL-4R gene (rs1805010 A>G, rs1805012 C>T, rs1805013 C>T, rs1801275 A>G) in 300 DTC patients matched to 300 controls. All patients were managed according to current guidelines and followed-up for a period of 12-252 months (69.20 ± 52.70 months). RESULTS: Although none of the six investigated SNPs showed association with risk of DTC, rs1805010 was associated with age of diagnosis and the SNPs rs1805012 and rs1801275 were associated to gender. Further, in-silico analysis showed that all these three SNPs were able to cause decreased stability of the protein. We were not able to demonstrate any other association to clinical features of aggressiveness or to patients' prognosis. CONCLUSIONS: These findings indicate that although genetic variants in IL-4 and IL-4R do not influence the risk or outcome of DTC patients, their influence on the behavior of thyroid tumors deserves further investigation.
Entities:
Keywords:
Cancer susceptibility; Interleukins; SNPs polymorphisms; Thyroid cancer
Authors: M A Marcello; P Malandrino; J F M Almeida; M B Martins; L L Cunha; N E Bufalo; G Pellegriti; L S Ward Journal: Endocr Relat Cancer Date: 2014-06-19 Impact factor: 5.678
Authors: Marjory Alana Marcello; Lucas Leite Cunha; Fernando Assis Batista; Laura Sterian Ward Journal: Endocr Relat Cancer Date: 2014-04-16 Impact factor: 5.678
Authors: Freddie Bray; Jacques Ferlay; Isabelle Soerjomataram; Rebecca L Siegel; Lindsey A Torre; Ahmedin Jemal Journal: CA Cancer J Clin Date: 2018-09-12 Impact factor: 508.702