Polymorphisms in the E-cadherin (CDH1) gene promoter and the risk of bladder cancer
Polymorphisms in the E-cadherin (CDH1) gene promoter and the risk of bladder cancer
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DOI：
10.1016/j.ejca.2006.05.033
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发表时间：
2006-12-01
影响因子：
8.4
通讯作者：
Verhaegh, Gerald W.
中科院分区：
文献类型：
--
作者：
Kiemeney, Lambertus A.;van Houwelingen, Kjeld P.;Verhaegh, Gerald W.
目的：e -钙粘蛋白在肿瘤发生中起一定作用。对于基因（CDH1）启动子的两个遗传多态性，已报道转录减少：C/ a单核苷酸多态性（SNP）和G/GA SNP分别位于转录起始位点上游-160 bp和-347 bp。我们研究了这两种多态性与膀胱癌风险之间的关系。方法：对197例膀胱癌患者和344例对照人群进行基因分型和单倍型分析。结果：A等位基因携带者膀胱癌风险显著增加（OR 1.36; 95% CI: 0.96-1.94）。我们没有发现-347 G/GA SNP与膀胱癌之间的任何关联。单倍型分析与膀胱癌的相关性并不比-160 C/A基因型分析强得多。结论：本研究支持了早期关于CDH1启动子中-160 C/A SNP是膀胱癌危险因素的观点。(c) 2006 Elsevier Ltd.版权所有。
Aim: E-cadherin plays a role in carcinogenesis. For two genetic polymorphisms in the gene (CDH1) promoter, a reduced transcription has been reported: a C/A single nucleotide polymorphism (SNP) and a G/GA SNP at -160 bp and -347 bp, respectively, upstream of the transcriptional start site. We studied the association between both polymorphisms and the risk of bladder cancer.Methods: One hundred and ninety-seven patients with bladder cancer and 344 population controls were genotyped and haplotyped for both SNPs.Results: A borderline significantly increased risk for bladder cancer was found for A allele carriers (OR 1.36; 95% CI: 0.96-1.94). We did not find any association between the -347 G/GA SNP and bladder cancer. Haplotype analyses did not yield much stronger associations with bladder cancer than the -160 C/A genotype analyses.Conclusion: This study supports earlier suggestions that the -160 C/A SNP in the CDH1 promoter is a risk factor for bladder cancer. (c) 2006 Elsevier Ltd. All rights reserved.