ObjectiveTo 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.

METHODSWe 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.

RESULTSIn 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.

CONCLUSIONSThe 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.

Adolescent ; Adult ; Aged ; Case-Control Studies ; China ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Neoplasms, Germ Cell and Embryonal ; diagnosis ; genetics ; therapy ; Polymorphism, Single Nucleotide ; genetics ; Testicular Neoplasms ; diagnosis ; genetics ; therapy ; Young Adult