Dataset Information

Programmed death-1 (PD-1) polymorphism is associated with gastric cardia adenocarcinoma.

ABSTRACT: Polymorphisms in gene encoding programmed death-1 (PD-1) were suggested to be associated with the risk of multiple cancers. To the best of our knowledge, no investigation has been carried out for gastric cardia adenocarcinoma (GCA) and PD-1 polymorphisms. Thus, we studied PD-1 rs10204525 A>G, rs7421861 T>C and rs2227982 C>T single nucleotide polymorphisms (SNPs) in 330 GCA cases and 608 cancer-free controls. Genotypes of PD-1 SNPs were determined by ligation detection reaction (LDR) assays. The distributions of the allele and genotype were not statistically significant in two groups for the three PD-1 SNPs. However, in stratified analyses by various characteristics (eg., age, sex, smoking condition and alcohol consumption status), we found a significantly increased risk of GCA associated with the PD-1 rs2227982 C>T polymorphism was evident among ever drinking cases (TT vs. CC: adjusted OR = 2.53, 95% CI = 1.11-5.79, P = 0.028; TT+CT vs. CC: adjusted OR = 2.04, 95% CI = 1.01-4.13, P = 0.047). For the other SNPs, in stratified analyses, no correlation between the SNPs and susceptibility of GCA was observed. In conclusion, our results highlight that rs2227982 C>T polymorphism in PD-1 gene may contribute to the risk of GCA.

SUBMITTER: Tang W

PROVIDER: S-EPMC4509319 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Programmed death-1 (PD-1) polymorphism is associated with gastric cardia adenocarcinoma.

Tang Weifeng W Chen Yu Y Chen Shuchen S Sun Bin B Gu Haiyong H Kang Mingqiang M

International journal of clinical and experimental medicine 20150515 5

Polymorphisms in gene encoding programmed death-1 (PD-1) were suggested to be associated with the risk of multiple cancers. To the best of our knowledge, no investigation has been carried out for gastric cardia adenocarcinoma (GCA) and PD-1 polymorphisms. Thus, we studied PD-1 rs10204525 A>G, rs7421861 T>C and rs2227982 C>T single nucleotide polymorphisms (SNPs) in 330 GCA cases and 608 cancer-free controls. Genotypes of PD-1 SNPs were determined by ligation detection reaction (LDR) assays. The ...[more]

PMID: 26221374

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Project description:In the present study, gene expression profiles were analyzed to identify the molecular mechanisms underlying gastric cardia adenocarcinoma (GCA) and gastric non-cardia adenocarcinoma (GNCA). A gene expression dataset (accession number GSE29272) was downloaded from Gene Expression Omnibus, and consisted of 62 GCA samples and 62 normal controls, as well as 72 GNCA samples and 72 normal controls. The two groups of differentially-expressed genes (DEGs) were compared to obtain common and unique DEGs. A differential analysis was performed using the Linear Models for Microarray Data package in R. Functional enrichment analysis was conducted for the DEGs using the Database for Annotation, Visualization and Integrated Discovery. Protein-protein interaction (PPI) networks were constructed for the DEGs with information from the Search Tool for the Retrieval of Interacting Genes. Subnetworks were extracted from the whole network with Cytoscape. Compared with the control, 284 and 268 genes were differentially-expressed in GCA and GNCA, respectively, of which 194 DEGs were common between GCA and GNCA. Common DEGs [e.g., claudin (CLDN)7, CLDN4 and CLDN3] were associated with cell adhesion and digestion. GCA-unique DEGs [e.g., MAD1 mitotic arrest deficient like 1, cyclin (CCN)B1, CCNB2 and CCNE1] were associated with the cell cycle and the regulation of cell proliferation, while GNCA-unique DEGs (e.g., GATA binding protein 6 and hyaluronoglucosaminidase 1) were implicated in cell death. A PPI network with 141 nodes and 446 edges were obtained, from which two subnetworks were extracted. Genes [e.g., fibronectin 1, collagen type I ?2 chain (COL1A2) and COL1A1] from the two subnetworks were implicated in extracellular matrix organization. These common DEGs could advance our understanding of the etiology of gastric cancer, while the unique DEGs in GCA and GNCA could better define the properties of specific cancers and provide potential biomarkers for diagnosis, prognosis or therapy.

Dataset Information

Programmed death-1 (PD-1) polymorphism is associated with gastric cardia adenocarcinoma.

Publications

Programmed death-1 (PD-1) polymorphism is associated with gastric cardia adenocarcinoma.

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