University of Miami, Miami, FL.
University of Miami, Miami, FL.
Urology. 2022 Aug;166:76-78. doi: 10.1016/j.urology.2022.02.023. Epub 2022 Mar 12.
Peyronie's Disease (PD) is estimated to occur in up to 13% of males and has been associated with Dupuytren's Disease (DD). We identified 3 men with PD/DD and hypothesized that there may be a genetic association between the 2 diseases. Blood samples were collected from the participants and sent for whole genome sequencing. A rare non-synonymous mutation in the ALMS1 gene was identified in 3 men. Interestingly, ALMS1 is associated with TGF-b, and aberrant fibrosis. This pilot study generates the hypothesis that mutations in ALMS1 may predispose patients to development of PD/DD.
Peyronie's 病（PD）估计在多达 13%的男性中发生，并且与 Dupuytren's 病（DD）有关。我们鉴定了 3 名 PD/DD 男性患者，推测这两种疾病之间可能存在遗传关联。从参与者采集血样并进行全基因组测序。在 3 名男性中发现了 ALMS1 基因中的罕见非同义突变。有趣的是，ALMS1 与 TGF-b 和异常纤维化有关。这项初步研究提出假说，即 ALMS1 中的突变可能使患者易患 PD/DD。
