睾丸生殖细胞瘤与37个单核苷酸多态性位点的关系

The study of the correlation between 37 single nucleotide polymorphisms and testicular germ cell tumor

目的探讨国内睾丸生殖细胞肿瘤（TGCTs）患者相关基因单核苷酸多态性（SNPs）风险位点，从不同角度分析其中的差异。方法选取国外全基因组关联分析得到的TGCTs患者37个SNPs风险位点。采用iMLDR^TM分析方法，将国内三所医院收集到的76例TGCTs患者及148例健康人群血液样本进行风险位点分型检测，将数据行病例一对照研究。结果rs4624820、rs6897876、rs4324715、rsl2699477、rsl0463352、rs4888262、rs4617646、rs210138、rs8046148、rs28391867rs3805663、rs4635969位点与国内TGCTs明显相关，rsl0463352、rsl2699477、rs755383、rs6897876、rs4624820、rs2900333、rs4617646、rs4324715位点与睾丸精原细胞瘤明显相关，rsl0463352、rsl2699477、rs210138、rs6897876、rs4617646、rs4624820、rs4324715位点与睾丸非精原细胞瘤明显相关。结论国内TGCTs患者的阳性SNPs位点与国外TGCTs患者存在差异，睾丸精原细胞瘤与非精原细胞瘤的阳性SNPs位点存在差异。

Objective To study associated single nucleotide polymorphisms （SNPs） with testicu- lar germ cell tumors （TGCTs） patients in China, expect to find the different risk SNPs of domestic TGCTs. Methods Selecting 37 SNPs from foreign genome - wide association study about TGCTs as candidate SNPs in this experiment. 76 TGCTs patients and 148 healthy men blood samples from three hospitals of China are genotyping in iMLDRTM for case -control. Results rs4624820, rs6897876, rsd324715, rs12699477, rs10463352, rs4888262, rs4617646, rs210138, rs8046148, rs2839186, rs3805663, rs4635969 are asso- eiated with TGCTs in China. rsllM63352, rs12699477, rs755383, rs6897876, rs4624820, rs2900333, rs4617646, rs4324715 are related to seminoma. And rs10463352, rs12699477, rs210138, rs6897876, rs4617646, rr,4624820, rs4324715 are related to non - seminoma. Conclusion The positive SNPs sites of TGCTs patients in the studied area of China are different from that of foreign TGCTs patients. There are al- so differences of positive SNPs sites between seminoma and non - seminoma.