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环氧化酶-2基因多态性与巴西人群结直肠癌易感性

Cyclooxygenase-2 gene polymorphisms and susceptibility to colorectal cancer in a Brazilian population.

作者信息

Tomitão Michele Tatiana Pereira, Nahas Sergio Carlos, Kubrusly Marcia Saldanha, Furuya Tatiane Katsue, Diniz Marcio Augusto, Marie Suely Kazue Nagahashi, Safatle-Ribeiro Adriana Vaz, Eluf-Neto José, Cecconello Ivan, Ribeiro Junior Ulysses

机构信息

Departamento de Gastroenterologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo/SP, Brasil.

Centro de Investigação Translacional em Oncologia, Instituto do Câncer do Estado de São Paulo, São Paulo/SP, Brasil.

出版信息

J Gastrointest Oncol. 2017 Aug;8(4):629-635. doi: 10.21037/jgo.2017.03.05.

Abstract

BACKGROUND

Multi-ethnicity of Brazilian population displays high levels of genomic diversity. Polymorphism may detect people at higher risk of developing cancer, distinctive response to treatment, and prognosis. Cyclooxygenase-2 (COX-2) is induced in response to growth factors and cytokines, and is expressed in inflammatory diseases, precancerous lesions and colorectal cancer (CRC). The aim of this study was to evaluate the influence of -1195A > G and 8473T > C polymorphisms as a risk factor of developing CRC.

METHODS

We evaluated Single Nucleotide Polymorphism (SNP) of 230 CRC patients and 196 healthy controls by Real-Time Polymerase Chain Reaction.

RESULTS

Populations were in Hardy-Weinberg equilibrium (HWE), except for control group of 8473T > C SNP. The frequencies were similar in both groups for genotypes and haplotypes. There was no association between studied polymorphisms and risk of CRC.

CONCLUSIONS

The gene polymorphisms studied do not participate in the genetic susceptibility to CRC in a Brazilian population.

摘要

背景

巴西人口的多民族性表现出高水平的基因组多样性。多态性可检测出患癌风险较高、对治疗有独特反应以及预后情况的人群。环氧合酶-2(COX-2)在生长因子和细胞因子的作用下被诱导表达,并在炎症性疾病、癌前病变和结直肠癌(CRC)中表达。本研究的目的是评估-1195A>G和8473T>C多态性作为患CRC风险因素的影响。

方法

我们通过实时聚合酶链反应评估了230例CRC患者和196例健康对照的单核苷酸多态性(SNP)。

结果

除8473T>C SNP的对照组外,各人群均处于哈迪-温伯格平衡(HWE)。两组的基因型和单倍型频率相似。所研究的多态性与CRC风险之间无关联。

结论

所研究的基因多态性不参与巴西人群对CRC的遗传易感性。

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本文引用的文献

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Introduction to genetic association studies.基因关联研究导论。
Cold Spring Harb Protoc. 2012 Mar 1;2012(3):297-306. doi: 10.1101/pdb.top068163.

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