Balkan Journal of Medical Genetics

TWENTY-FOUR GENES ARE UPREGULATED IN PATIENTS WITH HYPOSPADIAS
Karabulut R1, Turkyilmaz Z1, Sonmez K1, Kumas G2, Ergun SG2, Ergun MA2,*, Basaklar AC1
*Corresponding Author: Mehmet A. Ergun, M.D., Ph.D., Department of Medical Genetics, Gazi University Faculty of Medicine, Besevler, Ankara, Turkey; Tel.: +90 312 2024637; Fax. +90 312 2024635; E-mail: aliergun@gazi.edu.tr
page: 39

INTRODUCTION

Hypospadias is a congenital hypoplasia of the penis, with displacement of the urethral opening along the ventral surface, often associated with dorsal hooded foreskin and chordee [1]. The anatomical location of the misplaced urethral meatus determines the severity of this anomaly with the severity increasing from distal to proximal [2]. Hypospadias has also been reported to be one of the most common congenital anomalies, occurring in approximately 1:250 to 1:300 live births [3]. Although, the etiology of hypospadias remains unknown, a genetic component in the transmission of this birth defect has been suggested so it seems to be multifactorial [4]. In addition, 30.0% of severe hypospadias can be attributed to defects in the synthesis of testosterone or adrenal steroid hormones, receptor defects, syndrome-associated hypospadias, chromosomal anomalies, and/or defects in other genetic factors [2]. Thus, hypospadias may be a highly heterogeneous condition subject to multiple genetic and environmental factors [5]. With regard to molecular biology and microarray technology, it appears that hypospadias is potentially related to disrupted gene expression [6]. Previous studies revealed candidate genes including WT1, SF1, BMP4, BMP7, HOXA4, HOXB6, AR, FGF8, FGFR2, HSD3B2, SRD5A2, ATF3, MAMLD1, MID1, BNC2, ESR1, ESR2, ATF3, DGKK, CYP1A1, GSTM1, GSTT1, CTGF, CYR61 and EGF [1]. Also, in order to study the epigenetic modification of DNA methylation in hypospadias, genome-wide DNA methylation profiling was performed, and the SCARB1 and MYBPH genes have been reported to be involved in the etiology of hypospadias [7]. As hypospadias is reported to be an easily diagnosed malformation at the crossroads of genetics and environment, it is important to study the genetic component in order to elucidate its etiology [5]. Thus, in this study, our aim was to study the gene expression profiles both in human hypospadias tissues compared with that in normal penile tissues.

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