[一个与中国人群非贲门胃癌易感性相关的ADD1磷酸化位点密码子中的错义单核苷酸多态性]

[A missense SNP in the codon of ADD1 phosphorylation site associated with non-cardia gastric cancer susceptibility in a Chinese population].

作者信息

Wang Meng-han, Chang Jiang, Yu Dian-ke, Tan Wen, Lin Dong-xin

机构信息

Department of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.

出版信息

Zhonghua Zhong Liu Za Zhi. 2013 Apr;35(4):311-4. doi: 10.3760/cma.j.issn.0253-3766.2013.04.016.

DOI:10.3760/cma.j.issn.0253-3766.2013.04.016

PMID:23985264

Abstract

OBJECTIVE

This study investigated the association between a missense SNP in the codon of ADD1 phosphorylation site and the susceptibility of non-cardia gastric cancer in a Chinese population.

METHODS

PhosphoSitePlus and dbSNP database were combined to discover missense SNPs in the codon of phosphorylation site. Then, we genotyped the missense SNP in 1, 998 cases with non-cardia gastric cancer and 2, 008 cancer-free controls of Chinese descent. Analysis was conducted by using Logistic model adjusted by gender and age.

RESULTS

The rs4963 in the codon of ADD1 phosphorylation site was found. The frequencies of the 3 rs4963 genotypes, CC, CG, GG, among controls were 25.2%, 50.4%, and 24.4%, respectively, among patients were 20.1%, 50.6%, and 29.3%, respectively. Compared with CC genotype, the rs4963 CG genotype and GG genotype significantly increased the risk of non-cardia gastric cancer with the odds ratios being 1.24 (95%CI: 1.06 ∼ 1.46, P = 0.008) and 1.49 (95%CI: 1.25 ∼ 1.78, P < 0.001), respectively.

CONCLUSIONS

Fnnctional polymorphism in the phosphorylation site of ADD1 (rs4963) may influence the susceptibility of non-cardia gastric cancer.

摘要

目的

本研究调查了ADD1磷酸化位点密码子中的一个错义单核苷酸多态性（SNP）与中国人群非贲门胃癌易感性之间的关联。

方法

结合PhosphoSitePlus和dbSNP数据库来发现磷酸化位点密码子中的错义SNP。然后，我们对1998例非贲门胃癌患者和2008例中国裔无癌对照进行了该错义SNP的基因分型。采用经性别和年龄调整的逻辑模型进行分析。

结果

发现了ADD1磷酸化位点密码子中的rs4963。rs4963的3种基因型CC、CG、GG在对照组中的频率分别为25.2%、50.4%和24.4%，在患者组中的频率分别为20.1%、50.6%和29.3%。与CC基因型相比，rs4963的CG基因型和GG基因型显著增加了非贲门胃癌的发病风险，优势比分别为1.24（95%CI：1.06～1.46，P = 0.008）和1.49（95%CI：1.25～1.78，P < 0.001）。