BCL2（-938C>A）启动子多态性的 AA 基因型与卵巢癌患者生存时间延长相关。
Association of the AA genotype of the BCL2 (-938C>A) promoter polymorphism with better survival in ovarian cancer.
机构信息
Institute of Pharmacogenetics, Medical Faculty, University of Duisburg-Essen, Essen - Germany.
出版信息
Int J Biol Markers. 2009 Oct-Dec;24(4):223-9. doi: 10.1177/172460080902400402.
BACKGROUND
Bcl-2 plays a key role in the regulation of apoptosis. Recently, a novel regulatory single nucleotide polymorphism (-938C>A) in the inhibitory P2 BCL2 promoter was described. In this study we investigated its potential association with survival in epithelial ovarian cancer.
EXPERIMENTAL DESIGN
Patients (n=110) with primary epithelial ovarian cancer were retrospectively genotyped by pyrosequencing.
RESULTS
Genotype distribution was not significantly different between 110 ovarian cancer patients and 120 healthy controls, suggesting that genotypes of this polymorphism do not increase the susceptibility to ovarian cancer. Kaplan-Meier curves showed a significant association of the AA genotype with increased survival (p=0.002). Multivariate analysis revealed that the BCL2-938AC/CC genotype (hazard ratio 4.5; p=0.003) was an independent prognostic factor compared to other prognostic factors such as age, histological grade or tumor stage.
CONCLUSION
The results suggest a role for the BCL2-938C>A polymorphism as a marker for survival in patients with epithelial ovarian cancer.
背景
Bcl-2 在细胞凋亡的调控中起着关键作用。最近，在抑制性 P2 BCL2 启动子中描述了一种新的调节性单核苷酸多态性（-938C>A）。本研究旨在探讨其与上皮性卵巢癌患者生存的潜在关联。
实验设计
通过焦磷酸测序对 110 例原发性上皮性卵巢癌患者进行回顾性基因分型。
结果
110 例卵巢癌患者与 120 例健康对照者的基因型分布无显著差异，提示该多态性的基因型不会增加卵巢癌的易感性。Kaplan-Meier 曲线显示 AA 基因型与生存时间延长显著相关（p=0.002）。多因素分析显示，与年龄、组织学分级或肿瘤分期等其他预后因素相比，BCL2-938AC/CC 基因型（风险比 4.5；p=0.003）是独立的预后因素。
结论
这些结果提示 BCL2-938C>A 多态性可能是上皮性卵巢癌患者生存的标志物。
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