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Programmed death-1 (PD-1) polymorphisms in Chinese patients with esophageal cancer
Hao Qiu1, Liang Zheng2, Weifeng Tang3
1Department of Microbiology and Immunology, Medical School of Southeast University, Nanjing 210008, China.
Objectives:
Esophageal cancer is an extremely aggressive gastrointestinal malignancy, which appears to result from a complex interplay between genetic and environmental agents. The genetic loci conferring susceptibility have yet to be fully defined. Considering the role of programmed death-1 (PD-1) in immune regulation and tumor pathogenesis, we genotyped three functional single nucleotide polymorphisms (SNPs) in PD-1 in a Chinese population to explore whether these three SNPs confer susceptibility to esophageal cancer.
Design And Methods:
A total of 629 new diagnosed esophageal squamous cell carcinoma (ESCC) cases and 686 controls were recruited for this hospital-based case-control study. Genotyping was performed by the polymerase chain reaction-ligase detection reaction (PCR-LDR) method in all the subjects.
Results:
In the recessive model, when the PD-1 rs10204525 AA/AG genotypes were used as the reference group, the GG homozygote genotype was associated with a borderline statistically decreased risk of ESCC [adjusted odds ratio (OR)=0.68, 95% confidence interval (CI)=0.45-1.03, P=0.067]. However, there were no significant associations between the other two SNPs and ESCC risk. Stratified analyses showed that a significantly decreased risk of ESCC associated with PD-1 rs10204525 A>G polymorphism was overt among male and younger patients.
Conclusions:
Our results demonstrate for the first time that the PD-1 rs10204525 polymorphism might contribute to susceptibility of ESCC and may therefore support the hypothesis that genetic variants, influencing T cell activity-associated gene regulation, may modify cancer risk.
