Variant TP53BP1 rs560191 G>C is associated with risk of gastric cardia adenocarcinoma in a Chinese Han population.
OBJECTIVE
To investigate the association between gastric cardia adenocarcinoma (GCA) and ten functional single nucleotide polymorphisms (SNPs), including TP53BP1 rs560191 G>C, CASP8 rs1035142 G>T, CASP7 rs3127075 G>C, CASP7 rs7907519 C>A, and six C1orf10/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 SNPscan(TM) Kit was used to determine their genotypes.


RESULTS
When the TP53BP1 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 C1orf10/CRNN polymorphisms showed a significant difference in genotype distributions between the cases and the controls.


CONCLUSIONS
The results demonstrated that the functional polymorphism TP53BP1 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.
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Sheng
S
Zhang
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Weifeng
W
Tang
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Guowen
G
Ding
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Chao
C
Liu
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Ruiping
R
Liu
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Suocheng
S
Chen
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Haiyong
H
Gu
1 Department of General Surgery, the Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China ; 2 Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China ; 3 Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou 213003, China.
Chunzhao
C
Yu
TP53BP1; gastric cardia adenocarcinoma (GCA); molecular epidemiology; polymorphisms