INTRODUCTION - Peyronie's disease (PD) is progressive fibrotic disorder of the penile tunica albuginea that results in fibrotic penile plaques and may lead to penile deformity. Characterized by aberrant fibrosis resulting in part from persistence of myofibroblasts as well as altered gene expression, the molecular factors underpinning Peyronie's disease and other related fibrotic diatheses are just being elucidated.
A genetic link to PD was first identified using pedigree analyses three decades ago. However, the specific genetic factors that predispose patients to aberrant fibrosis remain unknown, and the relationships between these fibrotic conditions and other heritable diseases, including malignancy, are uncharacterized.
AIM - To review the current landscape linking molecular and genetic factors to aberrant fibrosis in PD as well as related fibrotic diatheses, including Dupuytren's disease.
METHODS - Review and evaluation of the literature from 1970 to present examining the genetic factors associated with PD.
MAIN OUTCOME MEASURES - Data describing the genetic factors associated with PD.
RESULTS - 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 and those derived from men with Peyronie's or Dupuytren's diseases. Finally, we discuss epigenetic mechanisms that may regulate gene expression and alter predisposition to fibrosis.
CONCLUSIONS - Although our current understanding of the genetic factors associated with PD are limited, significant advances have been made over the last three decades. Further research is necessary to provide a more comprehensive understanding of the landscape of genetic factors responsible for the development of PD.
Sexual medicine reviews. 2016 Jan 01 [Epub]
Amin S Herati, Alexander W Pastuszak
Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX 77030; Scott Department of Urology, Baylor College of Medicine, Houston, TX 77030., Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX 77030; Scott Department of Urology, Baylor College of Medicine, Houston, TX 77030.