[41个单核苷酸多态性位点与睾丸生殖细胞肿瘤的相关性]
[Correlation of 41 loci of single nucleotide polymorphisms with testicular germ cell tumor].
作者信息
Niu Yue, Fuerhaiti Shayiti, Bi Xing, Yang Feng, Yuan Shuai, Shi Hong-Zhe, Han Hui, Chen Peng, Li Chang-Ling
机构信息
Department of Urology, Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, China.
Xinjiang Medical University, Urumqi, Xinjiang 830011, China.
出版信息
Zhonghua Nan Ke Xue. 2018 Jul;24(7):602-607.
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
鉴定睾丸生殖细胞肿瘤（TGCT）患者的遗传易感基因及其单核苷酸多态性（SNP）位点，为TGCT的预测、诊断和治疗提供新思路。
方法
我们从国外发表的文献中确定了41个与TGCT相关的遗传易感基因的SNP位点。采用iMLDRTM基因分型技术，检测了76例中国TGCT患者（年龄16 - 68岁）和148例健康男性（年龄22 - 61岁）血液样本中遗传易感基因的SNP位点，并分析其与TGCT的相关性。
结果
在中国，发现TGCT与ESR2基因的SNP位点rs2978381、rs10146204、rs12435857和rs1256063、ESR1基因的rs9397080、PTEN基因的rs11202586、CYP1A1基因的rs2606345和rs4646903以及CYP19A1基因的rs1456432相关。
结论
我们的研究结果表明，中国和国外队列的TGCT患者阳性SNP位点存在差异，中国不同群体之间也存在差异。
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