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E-钙黏蛋白-160 C/A启动子多态性与中国人群胰腺癌风险

E-cadherin-160 C/A promoter polymorphism and risk of pancreatic carcinoma in Chinese population.

作者信息

Fei Yang, Hu Jian, Liu Shengli, Liu Xushun, Wang Feng, Gong Jieming

机构信息

Department of General Surgery, The 81st hospital of P.L.A., P.L.A. Cancer Center, Nanjing, P.R. China.

出版信息

Cancer Genet Cytogenet. 2010 Feb;197(1):25-31. doi: 10.1016/j.cancergencyto.2009.10.016.

DOI:10.1016/j.cancergencyto.2009.10.016
PMID:20113833
Abstract

Recent studies have implicated E-cadherin-160C/A single-nucleotide polymorphism (SNP) in susceptibility to and early onset of some cancers. We investigated the role of E-cadherin-160 C/A SNP in Chinese pancreatic carcinoma patients without dominant family history by genotyping 254 patients and 101 controls. The risk of cancer for CC genotype individuals was less than half that of AA individuals [odds ratio (OR) = 0.41; 95%confidence interval (95%CI) = 0.18-0.96]. Furthermore, patients with the CC and CA genotypes whose tumors were stages III (T(4)N(x)M(0)) and IV (T(x)N(x)M(1)) (OR = 0.38; 95%CI = 0.17-0.83), poorly differentiated (OR = 0.28; 95%CI = 0.09-0.84), and left-sided (OR = 0.45; 95%CI 0.21-0.98) were associated with significantly lower risk than AA patients. Young (60 years old or younger) AA patients had a 5-year lower mean age at onset than CC/CA patients (P = 0.02). Young male AA patients had worse disease-specific survival than CC/CA patients (P = 0.002). Thus, contrary to Canadians and Portuguese, the AA (rather than CC) genotype is associated with increased susceptibility and advanced pancreatic carcinoma in Chinese patients, suggesting a more complex relationship between the SNP and pancreatic carcinoma risk, possibly modulated by population differences.

摘要

近期研究表明,E-钙黏蛋白-160C/A单核苷酸多态性(SNP)与某些癌症的易感性及早期发病有关。我们通过对254例患者和101例对照进行基因分型,研究了E-钙黏蛋白-160C/A SNP在中国无显性家族史的胰腺癌患者中的作用。CC基因型个体患癌风险不到AA基因型个体的一半[比值比(OR)=0.41;95%置信区间(95%CI)=0.18 - 0.96]。此外,肿瘤处于III期(T(4)N(x)M(0))和IV期(T(x)N(x)M(1))(OR = 0.38;95%CI = 0.17 - 0.83)、低分化(OR = 0.28;95%CI = 0.09 - 0.84)以及左侧(OR = 0.45;95%CI 0.21 - 0.98)的CC和CA基因型患者,其风险显著低于AA基因型患者。年轻(60岁及以下)的AA基因型患者发病的平均年龄比CC/CA基因型患者低5岁(P = 0.02)。年轻男性AA基因型患者的疾病特异性生存率低于CC/CA基因型患者(P = 0.002)。因此,与加拿大人和葡萄牙人相反,在中国患者中,AA(而非CC)基因型与胰腺癌易感性增加及病情进展有关,这表明该SNP与胰腺癌风险之间的关系更为复杂,可能受人群差异的调节。

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Aging (Albany NY). 2020 Nov 20;12(24):25256-25274. doi: 10.18632/aging.104128.
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Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example.调控变异与疾病:以E-钙黏蛋白-160C/A单核苷酸多态性为例
Mol Biol Int. 2014;2014:967565. doi: 10.1155/2014/967565. Epub 2014 Sep 2.
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Contribution of the -160C/A polymorphism in the E-cadherin promoter to cancer risk: a meta-analysis of 47 case-control studies.
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PLoS One. 2012;7(7):e40219. doi: 10.1371/journal.pone.0040219. Epub 2012 Jul 5.
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Hum Genet. 2011 May;129(5):533-43. doi: 10.1007/s00439-011-0949-1. Epub 2011 Jan 15.