41个单核苷酸多态性位点与睾丸生殖细胞瘤的相关性研究  

Correlation of 41 loci of single nucleotide polymorphisms with testicular germ cell tumor

作　　者：牛越[1,2] 甫尔海提.沙依提 毕兴 杨峰[1] 袁帅[1] 石泓哲[3] 韩辉[4] 陈鹏[1] 李长岭[3] NIU Yue;Fuerhaiti Shayiti;BI Xing;YANG Feng;YUAN Shuai;SHI Hong-zhe;HAN Hui;CHEN Peng;LI Chang-ling(Department of Urology, Tumor Hospital of Xinjiang Medical University, Urumqi, Xinfiang 830011, China;Xinjiang Medical University, Urumqi, Xinfiang 830011, China;Department of Urology, Cancer Hospital, Chinese Academy of Medical Sciences, Beijing 100021, China;Department of Urology, Sun Yet-sen University Cancer Center, Guangzhou, Guangdong 510060, China)

机构地区：[1]新疆医科大学附属肿瘤医院泌尿科,新疆乌鲁木齐830011 [2]新疆医科大学,新疆乌鲁木齐830011 [3]中国医学科学院肿瘤医院泌尿外科,北京100021 [4]中山大学肿瘤防治中心泌尿外科,广东广州510060

出　　处：《中华男科学杂志》2018年第7期602-607,共6页National Journal of Andrology

基　　金：新疆维吾尔自治区科技援疆计划(2013911117)~~

摘　　要：目的:通过对76例睾丸生殖细胞肿瘤(TGCTs)患者与148例健康体检人群41个相关基因单核苷酸多态性(SNPs)位点进行病例对照研究,期望发现国内TGCTs患者的遗传易感基因及位点,为临床预测、诊治TGCTs提供新途径。方法:选取国外文献发现的TGCTs患者易感基因的41个SNPs位点,作为本实验待测位点。采用i MLDRTM分析方法,将76例TGCTs患者及148例健康体检人群血液样本进行待测位点分型检测。结果:在我国,ESR2基因的rs2978381、rs10146204、rs12435857、rs1256063位点,ESR1基因的rs9397080位点,PTEN基因的rs11202586位点,CYP1A1基因的rs2606345、rs4646903位点和CYP19A1基因的rs1456432位点与TGCTs相关。结论:本研究中TGCTs患者的相关SNPs位点与国外TGCTs人群存在差异,国内TGCTs患者的相关SNPs位点也不完全相同。Objective： To identify genetic susceptibility genes and the loci of their single nucleotide polymorphisms（ SNPs） in patients with testicular germ cell tumor（ TGCT） and provide some new ideas for the prediction,diagnosis and treatment of TGCT.Methods： We identified 41 SNP loci of TGCT-related genetic susceptibility genes from the literature published abroad. Using the i MLDRTMgenotyping technique,we examined the SNP loci of the genetic susceptibility genes in the blood samples from 76 TGCT patients（ aged 16-68 years） and 148 healthy men（ aged 22-61 years） in China and analyzed their correlation with TGCT. Results： In China,TGCT was found to be correlated with the SNP loci rs2978381,rs10146204,rs12435857 and rs1256063 of the ESR2 gene,rs9397080 of the ESR1 gene,rs11202586 of the PTEN gene,rs2606345 and rs4646903 of the CYP1 A1 gene,and rs1456432 of the CYP19 A1 gene. Conclusion： The results of our study indicated some difference in the positive SNP loci of the TGCT patients between Chinese and foreign cohorts as well as in different groups in China.

关 键 词：睾丸生殖细胞瘤 易感基因 单核苷酸多态性 遗传易感性 

分 类 号：R737.21[医药卫生—肿瘤]