Distribution of a single nucleotide polymorphism on codon 211 of the androgen receptor gene and its correlation with human renal cell cancer in Japanese patients.

The human androgen receptor (AR) gene contains a single nucleotide polymorphism (SNP) on codon 211 and two polymorphic short tandem repeats of CAG and GGC in the N-terminal domain that may influence transcription efficiency of AR gene. We previously reported that the lengths of the CAG and GGC repeats are inversely and linearly related to AR activity and associated with several cancers. However, little is known about this SNP on codon 211 of the AR gene in human renal cell cancer. The cause of renal cell cancer is not well understood although several factors such as chemical carcinogens and hormones have been implicated. AR has been identified in human and animal renal cell cancer. We hypothesize that the SNP on codon 211 is associated with human renal cell cancer. To test this hypothesis, the genetic distribution of the SNP on codon 211 of AR gene was investigated in renal cell cancer patients (211 cases) and healthy controls (200 cases). The allelic and genotypic distributions were determined by PCR-RFLP and direct DNA sequencing techniques. The chi2 test for these data revealed that the distribution of this SNP was not different between renal cell cancer patients as compared to normal healthy controls. The findings suggest that the SNP on codon 211 in the AR gene may not have an important role in the carcinogenesis of human renal cell cancers.