Department of Microbiology and Immunology, Southeast University Medical School, Nanjing, Jiangsu, China.
Department of Obstetrics and Gynecology, Xi'an, Shanxi, China.
Cancer Biomark. 2013 Jan 1;13(6):465-70. doi: 10.3233/CBM-130386.
PTEN, a candidate tumor suppressor gene, has been identified within chromosome 10q23 and plays an important role in tumorigenesis. The association between the IVS4 insertion/deletion (I/D) polymorphism of PTEN and cancer risk in several populations has been studied, but results are conflicting. The aim of the present study was to investigate association of PTEN IVS4 polymorphism with cancer risk by conducting a meta-analysis.
A literature search was conducted through PubMed, Chinese National Knowledge Infrastructure (CNKI) and WanFang databases (up to October 18, 2013). Six eligible studies with 2,179 cases and 3,132 controls were enrolled in the meta-analysis. The pooled odds ratio (OR) and 95% confidence intervals (CI) were used to assess the strength of association.
Our results indicated that the~polymorphism conferred a significantly decreased risk of overall cancer (dominant model: OR=0.87, 95% CI 0.77-0.99; recessive model: OR=0.83, 95% CI: 0.72-0.96; II vs. DD model: OR=0.79, 95% CI: 0.67-0.94; I vs. D model: OR=0.89, 95% CI: 0.82-0.97). Subgroup analysis by cancer type and ethnicity furtherly showed that PTEN gene IVS4 polymorphism was associated with decreased risk of digestive cancers (recessive model: OR=0.77, 95% CI: 0.64-0.92; II vs. DD model: OR=0.72, 95% CI: 0.58-0.91; I vs. D model: OR=0.84, 95% CI: 0.76-0.94), this strong association with reduced risk of cancer was also found in Asian population (recessive model: OR=0.83, 95% CI: 0.71-0.98; II vs. DD model: OR=0.79, 95% CI: 0.65-0.96; I vs. D model: OR=0.89, 95% CI: 0.81-0.98).
In conclusion, our meta-analysis suggested that PTEN IVS4 polymorphism might play a protective role in the development of cancer, further independent confirmation of associations observed in PTEN IVS4 polymorphism by more studies was necessary.
PTEN 是一个候选肿瘤抑制基因,位于染色体 10q23 上,在肿瘤发生中发挥重要作用。已经研究了 PTEN IVS4 插入/缺失(I/D)多态性与几种人群癌症风险之间的关联,但结果存在冲突。本研究的目的是通过荟萃分析研究 PTEN IVS4 多态性与癌症风险的关联。
通过 PubMed、中国国家知识基础设施(CNKI)和万方数据库(截至 2013 年 10 月 18 日)进行文献检索。纳入了 6 项符合条件的研究,共 2179 例病例和 3132 例对照进行荟萃分析。使用合并优势比(OR)和 95%置信区间(CI)来评估关联强度。
我们的结果表明,该~多态性显著降低了总体癌症的风险(显性模型:OR=0.87,95%CI 0.77-0.99;隐性模型:OR=0.83,95%CI:0.72-0.96;II 与 DD 模型:OR=0.79,95%CI:0.67-0.94;I 与 D 模型:OR=0.89,95%CI:0.82-0.97)。按癌症类型和种族进行亚组分析进一步表明,PTEN 基因 IVS4 多态性与降低消化系癌症风险相关(隐性模型:OR=0.77,95%CI:0.64-0.92;II 与 DD 模型:OR=0.72,95%CI:0.58-0.91;I 与 D 模型:OR=0.84,95%CI:0.76-0.94),这种与癌症风险降低的强烈关联也在亚洲人群中发现(隐性模型:OR=0.83,95%CI:0.71-0.98;II 与 DD 模型:OR=0.79,95%CI:0.65-0.96;I 与 D 模型:OR=0.89,95%CI:0.81-0.98)。
总之,我们的荟萃分析表明,PTEN IVS4 多态性可能在癌症的发生中发挥保护作用,需要更多的研究进一步独立确认 PTEN IVS4 多态性观察到的关联。