Department of Epidemiology, Second Military Medical University, Shanghai, China.
Gene. 2013 Jan 1;512(1):64-9. doi: 10.1016/j.gene.2012.09.094. Epub 2012 Oct 13.
Clear cell renal cell carcinoma (ccRCC) is a common urological malignancy. Our previous study has indicated that the protein tyrosine phosphatase receptor type delta (PTPRD) gene may play a role. To determine the effect of PTPRD genetic polymorphisms on ccRCC occurrence and progression, a total of 377 ccRCC cases and 754 matched controls were enrolled in the study. DNA sequencing and genotyping, and immunohistochemistry were conducted to test the associations of genotypes with ccRCC risk and PTPRD expression level in somatic tissues. The C allele of PTPRD rs2279776 was associated with a higher risk of ccRCC (per allele OR=1.23, P=0.03). Patients without distant metastasis at the time of surgery were followed for a median of 33.1months. Overall survival was not different between different rs2279776 genotype groups (P=0.30). The C allele was associated with a higher percentage of negative immunostaining in adjacent normal renal tissues (P=0.02). PTPRD rs2279776 SNP may be a novel genetic risk factor of ccRCC.
透明细胞肾细胞癌（ccRCC）是一种常见的泌尿系统恶性肿瘤。我们之前的研究表明，蛋白酪氨酸磷酸酶受体型δ（PTPRD）基因可能发挥作用。为了确定 PTPRD 基因多态性对 ccRCC 发生和进展的影响，共纳入 377 例 ccRCC 病例和 754 例匹配对照。进行 DNA 测序和基因分型以及免疫组织化学检测，以检测基因型与 ccRCC 风险和体细胞组织中 PTPRD 表达水平的相关性。PTPRD rs2279776 的 C 等位基因与 ccRCC 风险增加相关（每等位基因 OR=1.23，P=0.03）。手术时无远处转移的患者中位随访 33.1 个月。不同 rs2279776 基因型组之间的总生存率无差异（P=0.30）。C 等位基因与相邻正常肾组织中阴性免疫染色的百分比较高相关（P=0.02）。PTPRD rs2279776 SNP 可能是 ccRCC 的一个新的遗传风险因素。
