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

摘要

Objective:To investigate the association between gastric cardia adenocarcinoma(GCA) and ten functional single nucleotide polymorphisms(SNPs),including TP53BP1 rs560191 G>C,CASP8 rsl035142 G>T,CASP7 rs3127075 G>C,CASP7 rs7907S19 C>A,and six C1orf10/CRNN variants.We performed a hospitalbased 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 customby-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,CASP7rs3127075 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,welldesigned stuthes and further functional investigations are needed to confirm our findings.