Department of Clinical Sciences, Molecular Reproductive Medicine, Lund University, Sweden.
Mol Cell Endocrinol. 2012 Apr 4;351(2):279-85. doi: 10.1016/j.mce.2011.12.018. Epub 2012 Jan 5.
Testicular germ cell cancer (TGCC) is the most common malignancy in young men. Genetic variants known to be associated with risk of TGCC only partially account for the observed familial risks. We aimed to identify additional polymorphisms associated with risk as well as histological and clinical features of TGCC in 367 patients and 214 controls. Polymorphisms in ESR2 (rs1256063; OR=0.53, 95% CI: 0.35-0.79) and LHCGR (rs4597581; OR=0.68, 95% CI: 0.51-0.89, and rs4953617; OR=1.88, 95% CI: 1.21-2.94) associated with risk of TGCC. Polymorphisms in ESR1 (rs9397080; OR=1.85, 95% CI: 1.18-2.91) and LHCGR (rs7371084; OR=2.37, 95% CI: 1.26-4.49) associated with risk of seminoma and metastasis, respectively. SNPs in ESR1 (rs9397080) and LHCGR (rs7371084) were predictors of higher LH levels and higher androgen sensitivity index in healthy subjects. The results suggest that polymorphisms in ESR1, ESR2 and LHCGR contribute to the risk of developing TGCC, histological subtype, and risk to metastasis.
睾丸生殖细胞癌（TGCC）是年轻男性中最常见的恶性肿瘤。已知与 TGCC 风险相关的遗传变异仅部分解释了观察到的家族风险。我们旨在确定与 TGCC 的风险以及组织学和临床特征相关的其他多态性，在 367 名患者和 214 名对照中。ESR2（rs1256063；OR=0.53，95%CI：0.35-0.79）和 LHCGR（rs4597581；OR=0.68，95%CI：0.51-0.89，和 rs4953617；OR=1.88，95%CI：1.21-2.94）中的多态性与 TGCC 的风险相关。ESR1（rs9397080；OR=1.85，95%CI：1.18-2.91）和 LHCGR（rs7371084；OR=2.37，95%CI：1.26-4.49）中的多态性与精原细胞瘤和转移的风险相关。ESR1（rs9397080）和 LHCGR（rs7371084）中的 SNP 是健康受试者中 LH 水平升高和雄激素敏感性指数升高的预测因子。结果表明，ESR1、ESR2 和 LHCGR 中的多态性有助于 TGCC 的发病风险、组织学亚型和转移风险。
