Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX, USA; Scott Department of Urology, Baylor College of Medicine, Houston, TX, USA.
Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX, USA; Scott Department of Urology, Baylor College of Medicine, Houston, TX, USA.
Sex Med Rev. 2016 Jan;4(1):85-94. doi: 10.1016/j.sxmr.2015.10.002. Epub 2016 Jan 8.
Peyronie disease (PD) is a progressive fibrotic disorder of the penile tunica albuginea that results in fibrotic penile plaques and can lead to penile deformity. Characterized by aberrant fibrosis resulting in part from the persistence of myofibroblasts and altered gene expression, the molecular factors underpinning PD and other related fibrotic diatheses are just being elucidated. A genetic link to PD was first identified three decades ago using pedigree analyses. However, the specific genetic factors that predispose patients to aberrant fibrosis remain unknown, and the relations between these fibrotic conditions and other heritable diseases, including malignancy, are uncharacterized.
To review the current landscape linking molecular and genetic factors to aberrant fibrosis in PD and related fibrotic diatheses, including Dupuytren disease.
Review and evaluation of the literature from 1970 to the present for genetic factors associated with PD were performed.
Data describing the genetic factors associated with PD were obtained.
We describe the known structural chromosomal abnormalities and single-nucleotide polymorphisms associated with fibrotic diatheses and discuss the spectrum of differential gene expression data comparing normal tissues with those derived from men with PD or Dupuytren disease. We discuss epigenetic mechanisms that might regulate gene expression and alter predisposition to fibrosis.
Although the current understanding of the genetic factors associated with PD is limited, significant advances have been made during the past three decades. Further research is necessary to provide a more comprehensive understanding of the landscape of genetic factors responsible for the development of PD.
佩罗尼病（PD）是一种阴茎白膜的进行性纤维性疾病，导致纤维性阴茎斑块，并可导致阴茎畸形。其特征是异常纤维化，部分原因是肌成纤维细胞的持续存在和基因表达的改变，支撑 PD 和其他相关纤维性素质的分子因素刚刚被阐明。三十年前，通过家族分析首次确定了 PD 与遗传的联系。然而，导致患者易患异常纤维化的特定遗传因素仍不清楚，这些纤维性疾病与其他遗传性疾病（包括恶性肿瘤）之间的关系也尚未确定。
综述目前将分子和遗传因素与 PD 及相关纤维性素质（包括杜普伊特伦挛缩症）中异常纤维化联系起来的研究进展。
对 1970 年至今与 PD 相关的遗传因素的文献进行了回顾和评估。
获得描述与 PD 相关的遗传因素的数据。
我们描述了与纤维性素质相关的已知结构染色体异常和单核苷酸多态性，并讨论了比较正常组织与 PD 或杜普伊特伦挛缩症患者来源组织的差异基因表达数据的范围。我们讨论了可能调节基因表达并改变纤维化易感性的表观遗传机制。
尽管目前对与 PD 相关的遗传因素的理解有限，但在过去三十年中已经取得了重大进展。需要进一步的研究来提供对导致 PD 发生的遗传因素全景的更全面理解。
