Case Control Study
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Oct 7, 2017; 23(37): 6854-6867
Published online Oct 7, 2017. doi: 10.3748/wjg.v23.i37.6854
Association of insertion-deletions polymorphisms with colorectal cancer risk and clinical features
Diego Marques, Layse Raynara Ferreira-Costa, Lorenna Larissa Ferreira-Costa, Romualdo da Silva Correa, Aline Maciel Pinheiro Borges, Fernanda Ribeiro Ito, Carlos Cesar de Oliveira Ramos, Raul Hernandes Bortolin, André Ducati Luchessi, Ândrea Ribeiro-dos-Santos, Sidney Santos, Vivian Nogueira Silbiger
Diego Marques, Layse Raynara Ferreira-Costa, Lorenna Larissa Ferreira-Costa, Raul Hernandes Bortolin, André Ducati Luchessi, Vivian Nogueira Silbiger, Laboratório de Bioanálise e Biotecnologia Molecular, Universidade Federal do Rio Grande do Norte, Natal 59012-570, Rio Grande do Norte, Brazil
Diego Marques, Raul Hernandes Bortolin, André Ducati Luchessi, Vivian Nogueira Silbiger, Programa de Pós-graduação em Ciências Farmacêutica, Universidade Federal do Rio Grande do Norte, Natal 59012-570, Rio Grande do Norte, Brazil
Diego Marques, Ândrea Ribeiro-dos-Santos, Sidney Santos, Laboratório de Genética Humana e Médica, Universidade Federal do Pará, Belém 66055-080, Pará, Brazil
Romualdo da Silva Correa, Aline Maciel Pinheiro Borges, Fernanda Ribeiro Ito, Departamento de Cirurgia Oncológica, Liga Norte Riograndense Contra o Câncer, Natal 59040-000, Rio Grande do Norte, Brazil
Carlos Cesar de Oliveira Ramos, Laboratório de Patologia e Citopatologia, Liga Norte Riograndense Contra o Câncer, Natal 59040-000, Rio Grande do Norte, Brazil
André Ducati Luchessi, Vivian Nogueira Silbiger, Departamento de Análises Clínicas e Toxicológicas, Universidade Federal do Rio Grande do Norte, Natal 59012-570, Rio Grande do Norte, Brazil
Ândrea Ribeiro-dos-Santos, Sidney Santos, Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém 66073-005, Pará, Brazil
Author contributions: Ribeiro-dos-Santos A, Santos S and Silbiger VN designed the research; Correa RS, Borges AMP and Ito FR selected patients and collected clinical data; Ramos CCO collected histopathological data; Marques D, Ferreira-Costa LR and Ferreira-Costa LL collected biological material and performed the assays; Marques D, Bortolin RH and Luchessi AD analyzed the data; Marques D wrote the paper; Bortolin RH, Silbiger VN and Ribeiro-dos-Santos A critically revised the manuscript; Silbiger VN approved final version of the article to be published.
Supported by the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), No. 483031/2013-5; Rede de Pesquisa em Genomica Populacional Humana, No. Biocomputacional/CAPES-051/2013; Fundação de Amparo à Pesquisa do Estado do Pará, No. 155/2014; and Fundação de Amparo à Pesquisa do Estado do Rio Grande do Norte, No. 005/2011.
Institutional review board statement: This study was reviewed and approved by the Liga Norte Riograndense Contra o Câncer Institutional Review Board.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article.
Data sharing statement: Technical appendix, statistical code, and dataset are available from the corresponding author at viviansilbiger@hotmail.com; viviansilbiger@ufrnet.br.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Vivian Nogueira Silbiger, PhD, Professor, Departamento de Análises Clínicas e Toxicológicas, Universidade Federal do Rio Grande do Norte, Av. General Gustavo Cordeiro de Faria S/N, Petrópolis, Natal 59012-570, Rio Grande do Norte, Brazil. viviansilbiger@ufrnet.br
Telephone: +55-84-33429807 Fax: +55-84-33429833
Received: April 17, 2017
Peer-review started: April 27, 2017
First decision: June 5, 2017
Revised: June 24, 2017
Accepted: August 15, 2017
Article in press: August 15, 2017
Published online: October 7, 2017
Processing time: 164 Days and 1.2 Hours
Core Tip

Core tip: The insertion-deletions (INDEL) variations in IL4 gene was associated with increased colorectal cancer (CRC) risk, while TYMS and UP2 genes were associated with decreased risk. The Del-alleles of NFKB1 and CASP8 were associated with more colon related incidents than rectosigmoid. The Ins-alleles of ACE, HLAG and TP53 were associated with higher TNM stage. The Ins-allele of ACE, HLAG, and UGT1A1 were associated with early relapse risk, as well as the Del-allele of TYMS. The Ins-alleles of SGSM3 and UGT1A1 were associated with death risk. These data suggest that these INDEL might be useful as a complementary tool for better CRC clinical management.