中国汉族群体中PDCD1基因多态性与结直肠癌的相关性  

Association of programmed cell death 1（PDCD1） gene polymorphisms with colorectal cancer among Han Chinese population

作　　者：赵苑村 毛志刚 庞华 赵小红 张姝 高泽华 杨以文 方婷 马其钊 马晓丹 王玉芳 张霁 Zhao Yuancun, Mao Zhigang, Pang Hua, Zhao Xiaohong, Zhang Shu, Gao Zehua , Yang Yiwen , Fang Ting , Ma Qizhao , Ma Xiaodan , Wang Yu fang , ghang J i Departmentof Forensic Genetics(Zhao YC, Zhao XH, Zhang S, Gao ZH, Yang YW, Fang T, Zhang J）, Department of Pathophysiology （Ma QZ, Ma XD, Wang YF）, West China School of Basic Medicine and Forensic Medicine ; West China Hospital （Mao ZG） , Sichuan University, Chengdu, Sichuan 610041, China; Xigu Branch of Lanzhou Public Security Bureau, Lanzhou, Gansu 730060, China （Pang H)

机构地区：[1]四川大学华西基础医学与法医学院法医物证学教研室,成都610041 [2]四川大学华西基础医学与法医学院病理生理学教研室,成都610041 [3]四川大学华西医院 [4]甘肃省兰州市公安局西固分局,730060

出　　处：《中华医学遗传学杂志》2018年第2期219-223,共5页Chinese Journal of Medical Genetics

摘　　要：目的探讨程序性细胞死亡受体1（ programmed cell death 1，PDCD1）基因多态性与结直肠癌的发生发展的关联性。方法应用聚合酶链反应-限制性片段长度多态性（PCR-restriction fragment length polymorphism, PCR-RFLP）方法对426例结直肠癌患者及500名正常个体的rs36084323、rs11568821、rs2227981、rs2227982和rs10204525位点进行多态性分析。结果rs36084323位点G等位基因在显性遗传模型下与TNM分期进展期结直肠癌的发生正关联（OR＝1.59，95%CI：1.02～2.48）。rs36084323、rs11568821、rs2227981、rs2227982和rs10204525位点组成的单倍型G-G-C-T-A和A-G-C-C-G与结直肠癌的发生负关联。结论PDCD1基因rs36084323位点AG和GG基因型与TNM分期进展期的结直肠癌存在正关联。而G-G-C-T-A和A-G-C-C-G单倍型与结直肠癌的发生负关联。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.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.

关 键 词：PDCD1基因 结直肠癌 单核苷酸多态性 单倍型 

分 类 号：R735.34[医药卫生—肿瘤]