Gonçalves Meire Luzia, Borja Sarah Moreira, Cordeiro Jacqueline Andréia Bernardes Leão, Saddi Vera Aparecida, Ayres Flávio Monteiro, Vilanova-Costa Cesar Augusto Sam Tiago, Silva Antonio Márcio Teodoro Cordeiro
Departamento de Medicina, Pontifícia Universidade Católica de Goiás, Av. Universitária 1.069, Setor Universitário, Goiânia, Goiás CEP 74.605-010 Brazil.
Faculdade de Enfermagem, Universidade Federal de Goiás, Goiânia, Goiás CEP 74605-080 Brazil.
Springerplus. 2014 Dec 17;3:749. doi: 10.1186/2193-1801-3-749. eCollection 2014.
This study was conducted in order to investigate the implications of the R72P polymorphism in the TP53 gene in breast cancer risk. The enlightenment of this matter might provide a piece of information about the potential implications of this polymorphism in patient risk. A meta-analysis was conducted considering a large sample size from studies with conflicting results on the R72P polymorphism in breast cancer patients. Relevant studies were selected from PubMed and SciELO databases for data extraction and statistical analysis. Database was built according to the continent and considering the genotype frequencies, sample size and genotyping methodology. The dominant models (RR vs RP + PP and RR + RP vs. PP), homozygous (RR vs. PP), heterozygous (RR vs. RP and RP vs. PP) and the allele (R vs. P) were used. Genotype frequencies were summarized and evaluated by χ(2) test of heterogeneity in 2×2 contingency tables with 95% CIs. Odds Ratios (OR) were calculated with a fixed-effect model (Mantel-Haenszel) or a random-effect model (DerSimonian-Laird) if the studies were considered homogeneous (P > 0.05) or heterogeneous (P < 0.05), respectively, using BioEstat® 5.0 software. Supported by a large sample size composed by 25,629 cases and 26,633 controls from 41 studies, we found significant association between the R72P polymorphism in the TP53 gene and the breast cancer risk. The overall data shows an increased risk due to the P allele dominant model, but not in Asia where the risk was associated with the R allele and R dominant model.
本研究旨在调查TP53基因中R72P多态性对乳腺癌风险的影响。此事的启示可能会提供有关这种多态性对患者风险潜在影响的信息。考虑到来自对乳腺癌患者R72P多态性研究结果相互矛盾的大量样本，进行了一项荟萃分析。从PubMed和SciELO数据库中选择相关研究进行数据提取和统计分析。根据各大洲构建数据库，并考虑基因型频率、样本量和基因分型方法。使用显性模型（RR与RP + PP以及RR + RP与PP）、纯合子（RR与PP）、杂合子（RR与RP以及RP与PP）和等位基因（R与P）。通过2×2列联表中的异质性χ(2)检验汇总和评估基因型频率，并给出95%置信区间。若研究被认为是同质的（P > 0.05）或异质的（P < 0.05），则分别使用BioEstat® 5.0软件通过固定效应模型（Mantel-Haenszel）或随机效应模型（DerSimonian-Laird）计算优势比（OR）。由来自41项研究的25629例病例和26633例对照组成的大样本支持下，我们发现TP53基因中的R72P多态性与乳腺癌风险之间存在显著关联。总体数据显示，由于P等位基因显性模型，风险增加，但在亚洲并非如此，在亚洲风险与R等位基因和R显性模型相关。
