CASP8-652 6N del 和 CASP8 IVS12-19G>A 基因多态性与 ESCC 的易感性/预后：印度北部人群的病例对照研究。
CASP8 -652 6N del and CASP8 IVS12-19G>A gene polymorphisms and susceptibility/prognosis of ESCC: a case control study in northern Indian population.
机构信息
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareilly Road, Lucknow, India.
出版信息
J Surg Oncol. 2011 Jun 1;103(7):716-23. doi: 10.1002/jso.21881. Epub 2011 Feb 9.
BACKGROUND
Caspase8 influences carcinogenesis through regulation of apoptosis, hyperproliferation, and metastasis. Role of genetic variations in caspase8 has been explored in various cancers; however, their predictive and prognostic role in esophageal cancer is poorly understood.
METHODS
We investigated the association of two potential caspase8 polymorphisms: CASP8 -652 6N del and CASP8 IVS12-19 G>A polymorphisms with susceptibility and survival of 259 esophageal squamous cell carcinoma (ESCC) cases and 259 cancer-free controls from northern Indian population using PCR/PCR RFLP method.
RESULTS
CASP8 IVS12-19 AA genotype was found to be associated with significant increased risk of ESCC (odds ratio (OR) 3.28, 95% confidence interval (CI) 1.04-10.29) specifically in male subjects (OR 3.71, 95% CI 1.01-13.35) with lower third tumor anatomical location (OR 6.00, 95% CI 1.60-22.55). Kaplan-Meier and Cox Regression analysis showed lower median survival (7.13 months vs. 25.21 months) and greater hazard of death (HR 3.40, 95% CI 1.38-7.90) with CASP8 IVS12-19 AA genotype in ESCC cases compared to IVS12-19 GG genotype. However, no association of CASP8 -652 6N del polymorphism with susceptibility and prognosis of ESCC was observed.
CONCLUSION
CASP8 IVS12-19 G>A but not CASP8 -652 6N del polymorphism may modulate risk of ESCC and its survival outcome in northern Indian population.
背景
Caspase8 通过调节细胞凋亡、过度增殖和转移来影响癌症的发生。已经在各种癌症中探索了 caspase8 基因变异的作用，但其在食管癌中的预测和预后作用尚不清楚。
方法
我们使用 PCR/PCR RFLP 方法，研究了两个潜在的 caspase8 多态性：CASP8 -652 6N del 和 CASP8 IVS12-19 G>A 与 259 例印度北部食管癌（ESCC）病例和 259 例无癌对照的易感性和生存的关联。
结果
发现 CASP8 IVS12-19 AA 基因型与 ESCC 的显著增加风险相关（优势比（OR）3.28，95%置信区间（CI）1.04-10.29），特别是在男性（OR 3.71，95% CI 1.01-13.35）和肿瘤位于第三解剖位置（OR 6.00，95% CI 1.60-22.55）的病例中。Kaplan-Meier 和 Cox 回归分析显示，与 ESCC 病例中的 IVS12-19 GG 基因型相比，CASP8 IVS12-19 AA 基因型的中位生存时间（7.13 个月 vs. 25.21 个月）更短，死亡风险更高（HR 3.40，95% CI 1.38-7.90）。然而，没有发现 CASP8 -652 6N del 多态性与 ESCC 的易感性和预后相关。
结论
在印度北部人群中，CASP8 IVS12-19 G>A 但不是 CASP8 -652 6N del 多态性可能调节 ESCC 的风险及其生存结局。
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