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. 2017 Oct 7;23(37):6854-6867.
doi: 10.3748/wjg.v23.i37.6854.

Association of insertion-deletions polymorphisms with colorectal cancer risk and clinical features

Diego Marques  1 , Layse Raynara Ferreira-Costa  1 , Lorenna Larissa Ferreira-Costa  1 , Romualdo da Silva Correa  2 , Aline Maciel Pinheiro Borges  2 , Fernanda Ribeiro Ito  2 , Carlos Cesar de Oliveira Ramos  3 , Raul Hernandes Bortolin  1 , André Ducati Luchessi  1 , Ândrea Ribeiro-Dos-Santos  4 , Sidney Santos  4 , Vivian Nogueira Silbiger  1
Affiliations

Association of insertion-deletions polymorphisms with colorectal cancer risk and clinical features

Diego Marques et al. World J Gastroenterol. .

Abstract

Aim: To investigate the association between 16 insertion-deletions (INDEL) polymorphisms, colorectal cancer (CRC) risk and clinical features in an admixed population.

Methods: One hundred and forty patients with CRC and 140 cancer-free subjects were examined. Genomic DNA was extracted from peripheral blood samples. Polymorphisms and genomic ancestry distribution were assayed by Multiplex-PCR reaction, separated by capillary electrophoresis on the ABI 3130 Genetic Analyzer instrument and analyzed on GeneMapper ID v3.2. Clinicopathological data were obtained by consulting the patients' clinical charts, intra-operative documentation, and pathology scoring.

Results: Logistic regression analysis showed that polymorphism variations in IL4 gene was associated with increased CRC risk, while TYMS and UCP2 genes were associated with decreased risk. Reference to anatomical localization of tumor Del allele of NFKB1 and CASP8 were associated with more colon related incidents than rectosigmoid. In relation to the INDEL association with tumor node metastasis (TNM) stage risk, the Ins alleles of ACE, HLAG and TP53 (6 bp INDEL) were associated with higher TNM stage. Furthermore, regarding INDEL association with relapse risk, the Ins alleles of ACE, HLAG, and UGT1A1 were associated with early relapse risk, as well as the Del allele of TYMS. Regarding INDEL association with death risk before 10 years, the Ins allele of SGSM3 and UGT1A1 were associated with death risk.

Conclusion: The INDEL variations in ACE, UCP2, TYMS, IL4, NFKB1, CASP8, TP53, HLAG, UGT1A1, and SGSM3 were associated with CRC risk and clinical features in an admixed population. These data suggest that this cancer panel might be useful as a complementary tool for better clinical management, and more studies need to be conducted to confirm these findings.

Keywords: Admixed population; Clinical features; Colorectal cancer; Diagnostic; Ins-del polymorphism; Potential biomarker; Prognostic; Risk stratification.

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Conflict of interest statement

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.

Figures

Figure 1
Figure 1
Free-relapse survival of patients with colorectal cancer related with significant insertion-deletions. Logistic regression adjusted for confounders. The analyses and graphic were performed by survival packages, in R statistical software.
See this image and copyright information in PMC

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