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

World Journal of Gastroenterology 2017年第37期23卷 6854-6867页

作者： Diego Marques layse raynara ferreira-c.sta Lorenna Larissa ferreira-c.sta Romualdo da Silva correa Aline Maciel Pinheiro Borges Fernanda Ribeiro Ito carlos cesar de Oliveira Ramos Raul Hernandes Bortolin André Ducati Luchessi Andrea Ribeiro-dos-Santos Sidney Santos Vivian Nogueira Silbiger Laboratório de Bioanálise e Biotecnologia Molecular Universidade Federal do Rio Grande do Norte Programa de Pós-graduacao em ciências Farmacêutica Universidade Federal do Rio Grande do Norte Laboratório de Genética Humana e Médica Universidade Federal do Pará Departamento de cirurgia Oncológica Liga Norte Riograndense Contra o Cancer Laboratório de Patologia ecitopatologia Liga Norte Riograndense Contra o Cancer Depart-amento de Análises clínicas e Toxicológicas Universidade Federal do Rio Grande do Norte Núcleo de Pesquisas em Oncologia Universidade Federal do Pará

AIM To investigate the association between 16 insertiondeletions(INDEL) polymorphisms, colorectal cancer(cRc) risk and clinical features in an admixed *** O n e h u n d re d a n d fo r ty p a t i e n t s w i t h c R c a n d 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 Gene Mapper ID v3.2. clinicopathological data were obtained by consulting the patients' clinical charts, intra-operative documentation, and pathology *** 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 *** 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.

关键词： colorectal cancer Ins-del polymorphism Admixed population Potential biomarker Diagnostic Risk stratification Prognostic clinical features

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