Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.

ABSTRACT:

Background

The aberrant expression of genes involved in androgen metabolism and genetic contribution are unclear in hypospadias.

Methods

We compared gene expression profiles by RNA sequencing from five non-hypospadiac foreskins, five mild hypospadiac foreskins, and five severe hypospadiac foreskins. In addition, to identify rare coding variants with large effects on hypospadias risk, we carried out whole exome sequencing in three patients in a hypospadias family.

Results

The average expression of androgen receptor (AR) and CYP19A1 were significantly decreased in severe hypospadias (p < .01) and mild hypospadias (p < .05), whereas expression of several other androgen metabolism enzymes, including CYP3A4, HSD17B14, HSD3B7, HSD17B7, CYP11A1 were exclusively significantly

SUBMITTER: Chen Z 

PROVIDER: S-EPMC7434757 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature