Role of a CYP17 promoter polymorphism for familial prostate cancer risk in Germany.

BACKGROUND A thymidine to cytosine transition (designated A2 variant) in the promoter region of CYP17 has previously been associated with a familial history of prostate cancer in North American families. The purpose of the present study was to determine whether this correlation could be replicated in a European population. MATERIALS AND METHODS Case-control comparisons were performed by modelling a dominant (A1/A2 + A2/A2 vs. A1/A1) and a recessive (A2/A2 vs. A1/A2 + A1/A1) effect of the promoter modification. RESULTS An insignificant overrepresentation of homozygous carriers of the A2 allele (recessive effect) was found in sporadic cases, as compared to controls. However, the A2 variant was not related to familial disease. CONCLUSION Our results do not suggest a role of CYP17 as a high-risk susceptibility gene for familial prostate cancer, nor as a modifier for the disease risk in the European population.