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与食管鳞状细胞癌易感性相关的烟酰胺磷酸核糖转移酶基因多态性。

Genetic polymorphisms of NAMPT related with susceptibility to esophageal squamous cell carcinoma.

作者信息

Zhang Chuanzhen, Yan Daojie, Wang Shanshan, Xu Changqing, Du Wenjun, Ning Tao, Liu Changhong, Zhang Meijuan, Hou Ruiping, Chen Ziping

机构信息

Digestive Department, Shandong Provincial Qianfoshan Hospital, Shandong University, Jingshi Road 16766#, Jinan, 250014, China.

Infectious Diseases Hospital, Laiwu Hospital, Taishan Medical College, Laiwu, China.

出版信息

BMC Gastroenterol. 2015 Apr 21;15:49. doi: 10.1186/s12876-015-0282-6.

Abstract

BACKGROUND

Nicotinamide phosphoribosyl transferase (Nampt) plays a crucial role in tumorigenesis. The present study examines whether genetic polymorphisms of NAMPT are related to the risk of developing esophageal squamous cell carcinoma (ESCC).

METHODS

A total of 810 subjects were enrolled in this study, including 405 ESCC patients and 405 healthy controls. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), genotypes at rs61330082, rs2505568 and rs9034 of NAMPT were identified. Haplotypes were constructed using PHASE software. Multivariate logistic regression models were used to evaluate the potentiating effects of the genotypes, alleles and haplotypes on the development of ESCC.

RESULTS

The presence of genotypes CT and TT and allele T at rs61330082 was less frequent in ESCC cases than in controls (48.89% vs. 53.33%, P < 0.01, 95% CI: 0.33-0.68; 18.52% vs. 30.37%, P < 0.01, 95% CI: 0.22-0.50; 42.96% vs. 57.04%, P < 0.01, 95% CI: 0.38-0.61; respectively). No statistically significant differences existed in the distributions of genotypes or alleles at rs2505568 or rs9034 between ESCC cases and controls. Of five haplotypes constructed, haplotypes CTC, CTT and CAC were higher in ESCC cases (P < 0.01, OR = 1.57, 95% CI: 1.16-2.12; P = 0.04, OR = 1.72, 95% CI: 1.03-2.85; P < 0.01, OR = 3.39, 95% CI: 1.99-5.75; respectively) than in controls.

CONCLUSION

Genetic polymorphisms of NAMPT, specifically genotype CC and allele C at rs61330082 as well as haplotypes CTC, CTT and CAC, were significantly correlated with ESCC susceptibility.

摘要

背景

烟酰胺磷酸核糖转移酶(Nampt)在肿瘤发生中起关键作用。本研究探讨NAMPT基因多态性是否与食管鳞状细胞癌(ESCC)的发生风险相关。

方法

本研究共纳入810名受试者,包括405例ESCC患者和405名健康对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,鉴定NAMPT基因rs61330082、rs2505568和rs9034位点的基因型。使用PHASE软件构建单倍型。采用多因素逻辑回归模型评估基因型、等位基因和单倍型对ESCC发生的增强作用。

结果

ESCC患者中rs61330082位点基因型CT和TT以及等位基因T的出现频率低于对照组(分别为48.89%对53.33%,P<0.01,95%CI:0.33-0.68;18.52%对30.37%,P<0.01,95%CI:0.22-0.50;42.96%对57.04%,P<0.01,95%CI:0.38-0.61)。ESCC患者与对照组在rs2505568或rs9034位点的基因型或等位基因分布无统计学显著差异。在构建的5种单倍型中,ESCC患者中CT C、CT T和CA C单倍型的比例高于对照组(分别为P<0.01,OR = 1.57,95%CI:1.16-2.12;P = 0.04,OR = 1.72,95%CI:1.03-2.85;P<0.01,OR = 3.39,95%CI:1.99-5.75)。

结论

NAMPT基因多态性,特别是rs61330082位点的基因型CC和等位基因C以及单倍型CT C、CT T和CA C与ESCC易感性显著相关。

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