1.Association of programmed cell death 1 (PDCD1) gene polymorphisms with colorectal cancer among Han Chinese population.
Yuancun ZHAO ; ; Zhangj@scu.edu.cn. ; Zhigang MAO ; Hua PANG ; Xiaohong ZHAO ; Shu ZHANG ; Zehua GAO ; Yiwen YANG ; Ting FANG ; Qizhao MA ; Xiaodan MA ; Yufang WANG ; Ji ZHANG
Chinese Journal of Medical Genetics 2018;35(2):219-223
OBJECTIVETo assess the association of programmed cell death 1 (PDCD1) gene polymorphisms with the susceptibility and/or progression of colorectal cancer.
METHODSA hospital-based case-control study was carried out, which recruited 426 colorectal cancer patients and 500 healthy individuals. Five single nucleotide polymorphisms, namely rs36084323, rs11568821, rs2227981, rs2227982 and rs10204525, were selected for the study and genotyped with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.
RESULTSThe G allele of rs36084323 under a dominant model was associated with increased risk of advanced TNM staging of colorectal cancer progression (OR=1.59, 95%CI=1.02-2.48). Haplotypes G-G-C-T-A and A-G-C-C-G of the rs36084323, rs11568821, rs2227981, rs2227982, and rs10204525 were negatively associated with the occurrence of colorectal cancer.
CONCLUSIONThe G allele of rs36084323 is associated with increased risk of advanced TNM staging of colorectal cancer. Conversely, the incidence of colorectal cancer is negatively associated with the haplotypes G-G-C-T-A and A-G-C-C-G of rs36084323, rs11568821, rs2227981, rs2227982, and rs10204525.
Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; ethnology ; Colorectal Neoplasms ; genetics ; pathology ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Neoplasm Staging ; Polymorphism, Single Nucleotide ; Programmed Cell Death 1 Receptor ; genetics
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