Analysis of 6 Single-Nucleotide Polymorphisms in the Androgen Receptor Gene in Chilean Patients With Primary Spermatogenic Failure

摘要: Androgens are essential for spermatogenesis. It has been postulated that androgen activity is modulated directly or indirectly by genetic variability in the receptor gene sequence, including CAG/GGN polymorphisms and single-nucleotide (SNP). In this study, frequency of 6 SNPs constitute a haplotype sequence was determined enzyme restriction assays allele-specific polymerase chain reactions 117 secretory azo/oligozoospermic men (93 idiopathic 24 excryptorchidic), 121 controls with normal spermatogenesis (42 obstructive 79 normozoospermic men) whose hormonal measurements length were previously determined. The these not different between patients controls. A total 10 haplotypes (HAPs 1-10) formed found, one observed high population (HAP1, 83.2%; P < .001, χ(2) test). controls, except HAP5, which only detected patient history bilateral cryptorchidism (P = 0.014, Bonferroni On other hand, no associations found studied shorter longer CAG GGN polymorphisms. Interestingly, we 21 allele, correlated an increased risk spermatogenic impairment, more frequently among less common have higher follicle-stimulating hormone serum levels. summary, did find particular infertile impairment compared control men; however, appears to be associated male infertility, at significantly proportion haplotypes.