Analysis of Androgen Receptor Gene Mutations in Men with Idiopathic Infertility

Background and Development of the male phenotype and the initiation of spermatogenesis are intricately dependent on the cellular events that respond to androgens. The actions of androgens are mediated by the androgen receptor (AR). The aim of this study was to investigate the association of AR 5'UTR and codon 211 genetic variation with the risk of idiopathic male infertility. Genomic DNA was extracted from 60 men with idiopathic infertility and 70 healthy men. The genetic variation of 5'UTR and codon 211 was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)- and PCR-single strand conformation polymorphism (SSCP), respectively. No mobility shift was seen in the PCR products of 5'UTR in patient and control groups. We did not identify a single mutation at 5'UTR of AR gene in patients and controls. Genotype frequencies of codon 211 in patient group were GG (67%), GA (23%), AA (10%) and in control group there were GG (77%), GA (21%) and AA (1%). No significant differences were found between the two groups in allelic frequencies (χ2=2.40; P=0.3). Our findings suggest no correlation between these polymorphisms and male infertility in the studied patients. However, further studies of AR polymorphisms with their biological functions are needed to understand the role of these polymorphisms in the development of male infertility.