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
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Abstract
Hypospadias is a congenital hypoplasia of the
penis, with displacement of the urethral opening
along the ventral surface, and has been reported
to be one of the most common congenital anomalies,
occurring in approximately 1:250 to 1:300 live
births. 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. In this
study, the gene expression profiles both in human
hypospadias tissues and normal penile tissues were
studied by Human Gene Expression Array. Twentyfour
genes were found to be upregulated. Among
these, ATF3 and CYR61 have been reported previously.
Other genes that have not been previously
reported were also found to be upregulated: BTG2,
CD69, CD9, DUSP1, EGR1, EIF4A1, FOS, FOSB,
HBEGF, HNRNPUL1, IER2, JUN, JUNB, KLF2,
NR4A1, NR4A2, PTGS2, RGS1, RTN4, SLC25A25,
SOCS3 and ZFP36 (p <0.05). Further studies including
genome-wide association studies (GWAS) with
expression studies in a large patient group will help
us for identifiying the candidate gene(s) in the etiology
of hypospadias.
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