Background: Hypospadias is one of the most common congenital abnormalities in
the male which is characterized by altered development of urethra, foreskin and
ventral surface of the penis. Androgen receptor gene plays a critical role in the
development of the male genital system by mediating the androgens effects.
Objective: In present study, we looked for new variations in androgen receptor
promoter and screened its exon 1 for five single nucleotide polymorphisms (SNP) in
healthy and hypospadias Iranian men.
Materials and Methods: In our study, at first DNA was extracted from patients
(n=100) and controls (n=100) blood samples. Desired fragments of promoter and
exon 1 were amplified using polymerase chain reaction. The promoter region was
sequenced for the new variation and exone 1 screened for five SNPs (rs139767835,
rs78686797, rs62636528, rs62636529, rs145326748) using restriction fragment
length polymorphism technique.
Results: The results showed a new single nucleotide variation (C→T) at -480 of two
patients’ promoter region (2%). None of the mentioned SNPs were detected in
patients and controls groups (0%).
Conclusion: This finding indicates that new single nucleotide polymorphism in
androgen receptor promoter may have role in etiology of hypospadias and
development of this anomaly
