Purpose: In the present study, we tested the hypothesis that microsatellite alterations (MSI) and loss of heterozygosity (LOH) are associated with Peyronie's disease. To test this hypothesis, we analyzed samples from patients with Peyronie's for MSI and LOH on chromosomes 3, 8 and 9 using 20 different genetic markers.
Materials and methods: DNA was isolated from the penile fibrotic plaque, amplified using PCR, and analyzed for MSI and LOH on chromosomes 3, 8 and 9 using 20 different polymorphic markers (D3S1228, D3S1298, D3S1560, D3S1745, D3S2396, D3S647, D8S133, D8S255, D8S259, D8S260, D8S262, D8S285, D8S298, D8S507, D8S528, D9S162, D9S171, D9S1747, D9S1748, and D9S273). Only 10 primers (D3S1560, D3S647, D3S1298, D8S262, D8S260, D8S528, D9S171, D9S1747, D9S273 and D9S1748) showed MSI and LOH in Peyronie's samples. Microsatellite alterations and LOH were analyzed by a PCR-based technique developed in our laboratory.
Results: This study demonstrates a high frequency of MSI and LOH in Peyronie's disease. Fourteen of 35 cases (40%) showed MSI at a minimum of one locus, 6 of 35 cases (17%) at a minimum of 2 loci and three of 35 (8.5%) cases at three or more loci. D9S273 locus showed highest MSI when compared with other loci examined in this study. For LOH, 14 of 35 cases (40%) were observed at a minimum of one locus, 5 of 35 cases (14%) at minimum of two loci and one out of 35 cases (2.8%) showed LOH at three or more loci. The D3S1560 and D9S171 loci showed highest LOH when compared with all other loci examined in this study.
Conclusion: This is the first report demonstrating that a high frequency of MSI and LOH is associated with Peyronie's disease, suggesting their role in the pathogenesis of this disease.