[汉族人群中程序性细胞死亡1（PDCD1）基因多态性与结直肠癌的关联]
[Association of programmed cell death 1 (PDCD1) gene polymorphisms with colorectal cancer among Han Chinese population].
作者信息
Zhao Yuancun, Mao Zhigang, Pang Hua, Zhao Xiaohong, Zhang Shu, Gao Zehua, Yang Yiwen, Fang Ting, Ma Qizhao, Ma Xiaodan, Wang Yufang, Zhang Ji
机构信息
Department of Forensic Genetics, West China School of Basic Medicine and Forensic Medicine; Sichuan University, Chengdu, Sichuan 610041, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):219-223. doi: 10.3760/cma.j.issn.1003-9406.2018.02.016.
OBJECTIVE
To assess the association of programmed cell death 1 (PDCD1) gene polymorphisms with the susceptibility and/or progression of colorectal cancer.
METHODS
A 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.
RESULTS
The 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.
CONCLUSION
The 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.
目的
评估程序性细胞死亡1（PDCD1）基因多态性与结直肠癌易感性和/或进展的关联。
方法
开展一项基于医院的病例对照研究，纳入426例结直肠癌患者和500名健康个体。选择5个单核苷酸多态性，即rs36084323、rs11568821、rs2227981、rs2227982和rs10204525进行研究，并采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法进行基因分型。
结果
在显性模型下，rs36084323的G等位基因与结直肠癌进展的晚期TNM分期风险增加相关（OR=1.59，95%CI=1.02-2.48）。rs36084323、rs11568821、rs2227981、rs2227982和rs10204525的单倍型G-G-C-T-A和A-G-C-C-G与结直肠癌的发生呈负相关。
结论
rs36084323的G等位基因与结直肠癌晚期TNM分期风险增加相关。相反，结直肠癌的发病率与rs36084323、rs11568821、rs2227981、rs2227982和rs10204525的单倍型G-G-C-T-A和A-G-C-C-G呈负相关。
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