机构：[1]Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Soochow University, San Xiang Road No. 1055, Suzhou 215004, People’s Republic of China[2]Soochow University Laboratory of Cancer Molecular Genetics, Medical College of Soochow University, Suzhou 215123, People’s Republic of China[3]Department of Radiotherapy and Oncology, The Second Affiliated Hospital of Soochow University, San Xiang Road No. 1055, Suzhou 215004, People’s Republic of China[4]Department of Obstetrics and Gynecology, Third Hospital, Peking University, Beijing 100191, People’s Republic of China
The epithelial cell adhesion molecule (EpCAM) was originally identified as a tumor associated antigen, attributable to its high expression on rapidly proliferating tumors of epithelial origin. EpCAM plays vital roles in carcinogenesis, tumor progression and metastasis in most tumors. A non-synonymous polymorphism (rs1126497 C/T) was found in exon 3 of EpCAM, which cause a transition from 115 Met to 115 Thr. Another polymorphism (rs1421 A/G) in the 3'UTR causes loss of has-miR-1183 binding. We performed a multiple independent case-control analysis to assess the association between EpCAM genotypes and cervical cancer risk. Genotyping a total of 518 patients with cervical cancer and 723 control subjects in a Chinese population, we observed that the variant EpCAM genotypes (rs1126497 CT, and TT) were associated with substantially increased risk of cervical cancer. Compared with the rs1126497 CC genotype, CT genotype had a significantly increased risk of cervical cancer (Crude OR = 1.70; 95% CI = 1.33-2.20; adjusted OR = 1.72; 95% CI = 1.33-2.22), the TT carriers had a further increased risk of cervical cancer (Crude OR = 1.94; 95% CI = 1.01-3.72; adjusted OR = 1.96; 95%CI = 1.01-3.81), and there was a trend for an allele dose effect on risk of cervical cancer (P < 0.001). Moreover, the allele T increases the risk for invasive disease or metastatic disease, compared with C allele. However, there exists no significant difference in genotype frequencies of rs1421 A/G site between cases and controls (P = 0.798). These findings suggest that rs1126497 C/T polymorphism in EpCAM may be a genetic modifier for developing cervical cancer.
基金：
This study was supported by the National Natural
Scientific Foundation of China grants 81001278, 81072366 and
81171895; the Suzhou Science and Technology Agency grant
SYS201052; the Scientific Research Foundation for the Returned
Overseas Chinese Scholars, State Education Ministry (No.20101561);
A Project Funded by the Priority Academic Program Development of
Jiangsu Higher Education Institutions; Jiangsu Provincial Natural
Science Foundation of China (No. BK2011297 ); Jiangsu
Province’s Key Medical Department in 2011 and
Beijing Nova Program (No.2009B03 ).
第一作者机构：[1]Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Soochow University, San Xiang Road No. 1055, Suzhou 215004, People’s Republic of China
共同第一作者：
通讯作者：
通讯机构：[2]Soochow University Laboratory of Cancer Molecular Genetics, Medical College of Soochow University, Suzhou 215123, People’s Republic of China[4]Department of Obstetrics and Gynecology, Third Hospital, Peking University, Beijing 100191, People’s Republic of China
推荐引用方式(GB/T 7714)：
Min Hu,Lan Jian,Liyuan Zhang,et al.Functional polymorphism in the EpCAM gene is associated with occurrence and advanced disease status of cervical cancer in Chinese population[J].MOLECULAR BIOLOGY REPORTS.2012,39(7):7303-9.doi:10.1007/s11033-012-1560-9.
APA：
Min Hu,Lan Jian,Liyuan Zhang,Jiang Zheng,Yonghe You...&Yifeng Zhou.(2012).Functional polymorphism in the EpCAM gene is associated with occurrence and advanced disease status of cervical cancer in Chinese population.MOLECULAR BIOLOGY REPORTS,39,(7)
MLA：
Min Hu,et al."Functional polymorphism in the EpCAM gene is associated with occurrence and advanced disease status of cervical cancer in Chinese population".MOLECULAR BIOLOGY REPORTS 39..7(2012):7303-9
