Variant TP53BP1 rs560191 G>C is associated with risk of gastric cardia adenocarcinoma in a Chinese Han population  

作　　者：Sheng Zhang Weifeng Tang Guowen Ding Chao Liu Ruiping Liu Suocheng Chen Haiyong Gu Chunzhao Yu 

机构地区：[1]Department of General Surgery,the Second Affiliated Hospital of Nanjing Medical University [2]Department of Cardiothoracic Surgery,Affiliated People's Hospital of Jiangsu University [3]Department of Orthopedics,Affiliated Hospital of Nanjing Medical University,Changzhou Second People's Hospital

出　　处：《Chinese Journal of Cancer Research》2015年第2期156-162,共7页中国癌症研究（英文版）

基　　金：supported in part by National Natural Science Foundation of China(No.81101889)

摘　　要：Objective： To investigate the association between gastric cardia adenocarcinoma （GCA） and ten functional single nueleotide polymorphisms （SNPs）, including TPY3BPI rs560191 G〉C, CASP8 rs1035142 G〉T, CASP7 rs3127075 G〉C, CASP7 rs7907519 C〉A, and six C1 orf 10/CRNN variants. We performed a hospital- based case-control study to evaluate the genetic effects of these SNPs. Methods： Two hundred and forty-three GCA cases and 476 controls were enrolled in this study. A custom- by-design 48-Plex SNPscanTM Kit was used to determine their genotypes. Results： When the TP^3BP1 rs560191 GG homozygote genotype was used as the reference group, the GC genotype was associated with a significantly increased risk of GCA. The CC genotype was not associated with the risk of GCA compared with the GG genotype. None of the CASP8 rs1035142 G〉T, CASP7 rs3127075 G〉C, CASP7 rs7907519 C〉A or the six ClorflO/CRNN polymorphisms showed a significant difference in genotype distributions between the cases and the controls. Conciusions： The results demonstrated that the functional polymorphism TP53BPI rs560191 G〉C might contribute to GCA susceptibility. However, the statistical power of our study was limited. Large, well- designed studies and further functional investigations are needed to confirm our findings.Objective： To investigate the association between gastric cardia adenocarcinoma （GCA） and ten functional single nueleotide polymorphisms （SNPs）, including TPY3BPI rs560191 G〉C, CASP8 rs1035142 G〉T, CASP7 rs3127075 G〉C, CASP7 rs7907519 C〉A, and six C1 orf 10/CRNN variants. We performed a hospital- based case-control study to evaluate the genetic effects of these SNPs. Methods： Two hundred and forty-three GCA cases and 476 controls were enrolled in this study. A custom- by-design 48-Plex SNPscanTM Kit was used to determine their genotypes. Results： When the TP^3BP1 rs560191 GG homozygote genotype was used as the reference group, the GC genotype was associated with a significantly increased risk of GCA. The CC genotype was not associated with the risk of GCA compared with the GG genotype. None of the CASP8 rs1035142 G〉T, CASP7 rs3127075 G〉C, CASP7 rs7907519 C〉A or the six ClorflO/CRNN polymorphisms showed a significant difference in genotype distributions between the cases and the controls. Conciusions： The results demonstrated that the functional polymorphism TP53BPI rs560191 G〉C might contribute to GCA susceptibility. However, the statistical power of our study was limited. Large, well- designed studies and further functional investigations are needed to confirm our findings.

关 键 词：TP53BP1 POLYMORPHISMS gastric cardia adenocarcinoma （GCA） molecular epidemiology 

分 类 号：R735.2[医药卫生—肿瘤]