Polymorphism in protein tyrosine phosphatase receptor delta is associated with the risk of clear cell renal cell carcinoma.

Abstract 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 33.1 months. 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.