在希腊高加索人群中，P53基因第72位密码子精氨酸纯合性及其在左侧散发性结直肠癌中发生率的增加。

P53Arg72 homozygosity and its increased incidence in left-sided sporadic colorectal adenocarcinomas, in a Greek-Caucasian population.

作者信息

Dakouras Anastasios, Nikiteas Nikolaos, Papadakis Emmanuel, Perakis Michael, Valis Dimitrios, Rallis George, Tzanakis Nikolaos, Peros George, Tsigkris Christos, Kittas Christos, Karakitsos Petros

机构信息

Department of Histology and Embryology, School of Medicine, University of Athens, Greece.

出版信息

Anticancer Res. 2008 Mar-Apr;28(2A):1039-43.

PMID:18507052

Abstract

BACKGROUND

The current case-control study was conducted in order to elucidate any possible association of the single nucleotide polymorphism (SNP) of codon 72 of the p53 gene (Arg72Pro) and sporadic colorectal adenocarcinoma development in a Caucasian population in Greece. The distribution of its alleles, in relation to many clinical parameters of the cancer group, was also investigated.

MATERIALS AND METHODS

Genomic DNA samples from 93 sporadic colorectal adenocarcinoma cases and 95 healthy controls (age and ethnicity matched) were used to genotype the p53 codon 72 polymorphism.

RESULTS

A strong association of the homozygous 72Arg allele with the development of colorectal cancer was observed (Chi-Square = 11,212, p = 0.001, O.R = 2.902, 95% (CI) = 1.540-5.469, for Arg/Arg vs. Arg/Pro and Pro/Pro). When tumor location was accounted for, the Arg/Arg carrier genotypes were associated with an increased incidence of left colon cancer (Chi-Square = 5.256, p = 0.026, OR = 2.975, 95% (CI) = 1.150-7.699).

CONCLUSION

p53Arg homozygosity is associated with the development of sporadic colorectal adenocarcinoma, in the Greek-Caucasian population studied and this polymorphism may have a significant prognostic value, where tumor location is concerned.

摘要

背景

开展当前这项病例对照研究，旨在阐明希腊白种人群中p53基因第72位密码子的单核苷酸多态性（SNP，即Arg72Pro）与散发性结直肠癌发生之间的任何可能关联。还研究了其等位基因分布与癌症组诸多临床参数的关系。

材料与方法

采用93例散发性结直肠癌病例和95例健康对照（年龄和种族匹配）的基因组DNA样本，对p53基因第72位密码子多态性进行基因分型。

结果

观察到纯合72Arg等位基因与结直肠癌发生之间存在强关联（卡方检验=11.212，p = 0.001，比值比=2.902，95%置信区间=1.540 - 5.469，针对Arg/Arg与Arg/Pro及Pro/Pro）。当考虑肿瘤位置时，Arg/Arg携带者基因型与左半结肠癌发病率增加相关（卡方检验=5.256，p = 0.026，比值比=2.975，95%置信区间=1.150 - 7.699）。