Dataset Information

PD-1 gene rs10204525 and rs7421861 polymorphisms are associated with increased risk and clinical features of esophageal cancer in a Chinese Han population.

ABSTRACT: Programmed death-1 (PD-1) polymorphisms have been associated with esophageal cancer risk. Here, the aims of this case-control study were to explore whether three PD-1 polymorphisms (rs10204525, rs7421861, and rs36084323) were related with the risk and clinical features of esophageal cancer in Chinese Han subjects (n = 814 cases and 961 controls). We found that rs10204525 and rs7421861, but not rs36084323, conferred increased susceptibility to esophageal cancer. Subgroup analysis revealed that all three loci increased the risk of esophageal cancer among men, and that rs10204525 and rs7421861 correlated with increased risk among patients ? 60 years old. The rs10204525 and rs7421861 polymorphisms were associated with higher TNM stage, and rs10204525 was associated with distant metastasis. The combination of smoking and either the rs10204525 or rs7421861 genotype conferred an increased risk to esophageal cancer, which is indicative of potential gene-environment interactions. The rs10204525 and rs7421861 polymorphisms correlated with increased PD-1 gene and protein levels, and Kaplan-Meier survival curves showed higher PD-1 gene expression was related to poorer overall survival. These data indicate the rs10204525 and rs7421861 polymorphisms of PD-1 gene confer an increased risk of esophageal cancer among Chinese Han individuals.

SUBMITTER: Zang B

PROVIDER: S-EPMC7066885 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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PD-1 gene rs10204525 and rs7421861 polymorphisms are associated with increased risk and clinical features of esophageal cancer in a Chinese Han population.

Zang Bao B Chen Chen C Zhao Jian-Qiang JQ

Aging 20200221 4

Programmed death-1 (PD-1) polymorphisms have been associated with esophageal cancer risk. Here, the aims of this case-control study were to explore whether three PD-1 polymorphisms (rs10204525, rs7421861, and rs36084323) were related with the risk and clinical features of esophageal cancer in Chinese Han subjects (n = 814 cases and 961 controls). We found that rs10204525 and rs7421861, but not rs36084323, conferred increased susceptibility to esophageal cancer. Subgroup anal ...[more]

PMID: 32084010

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Project description:Background: Lung cancer is one of the most common human malignant diseases. In this study, we aimed to explore the association between IL1RL1 genetic polymorphisms and lung cancer risk in the Chinese Han population. Methods: We selected and genotyped six SNPs in the IL1RL1 gene using the Agena MassARRAY system in 507 lung cancer patients and 507 healthy controls. The association between IL1RL1 variants and lung cancer risk was assessed using logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Multi-factor dimensionality reduction (MDR) was used to analyze the impact of SNP-SNP interactions on the risk of lung cancer. Results: The results of overall analysis indicated that rs12479210 (T vs. C: OR = 1.42, FDR-p = 0.002; TC vs. CC: OR = 1.70, FDR-p < 0.0001; TT vs. CC: OR = 1.77, FDR-p = 0.032; TT-TC vs. CC: OR = 1.71, FDR-p = 0.001; additive: OR = 1.44, FDR-p = 0.001) and rs1420101 (T vs. C: OR = 1.31, FDR-p = 0.036; TT-TC vs. CC: OR = 1.42, FDR-p = 0.031; additive: OR = 1.30, FDR-p = 0.030) were associated with an increased the risk of lung cancer among the Chinese Han population. Stratified analysis also found the association between these two SNPs and lung cancer risk. However, there were no significant association observed between the other four SNPs (rs3771180, rs3771175, rs10208293, and rs10197862) in IL1RL1 and lung cancer risk. Furthermore, MDR analysis showed that rs12479210 was the best single model with the highest testing accuracy (0.566) and perfect CVC (10/10) for predicting lung cancer risk. The expression level of the IL1RL1 gene is lower in lung cancer tissue than normal tissue, and there are significant differences in the expression levels of IL1RL1 between rs12479210 and rs1420101 genetypes in lung cancer tissue (p < 0.05). Conclusion: Our findings suggest that IL1RL1 genetic variants (rs12479210 and rs1420101) are associated with an increased lung cancer risk in the Chinese Han population. These risk variants may serve as biomarkers for the prevention and treatment of lung cancer.

Dataset Information

PD-1 gene rs10204525 and rs7421861 polymorphisms are associated with increased risk and clinical features of esophageal cancer in a Chinese Han population.

Publications

PD-1 gene rs10204525 and rs7421861 polymorphisms are associated with increased risk and clinical features of esophageal cancer in a Chinese Han population.

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