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 iMLDRTM genotyping 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 CYP1A1 gene, and rs1456432 of the CYP19A1 gene.
Conclusions: 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.
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iMLDRTM 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。
Keywords: genetic susceptibility; single nucleotide polymorphism; susceptibility gene; testicular germ cell tumor.