Polymorphisms of androgens‐related genes and idiopathic male infertility in Turkish men

Abstract

Androgens, testosterone and dihydrotestosterone (DHT) are endocrine regulators of spermatogenesis and act via androgen receptor (AR). The aim of this study was to investigate the association(s) of AR (CAG repeat length), SRD5A2 (rs523349, V89L) and TNFα (rs1800629, -308G/A) polymorphisms with idiopathic male infertility in Turkish men. This case-control study consisted of 312 men with idiopathic infertility and 113 fertile men. Polyacrylamide gel electrophoresis (PAGE) or PCR-restriction fragment length polymorphism methods were used for genotyping. The mean AR CAG repeat length was significantly longer in infertile men than in fertile men (p = 0.015).However, there was no significant association between the SRD5A2 genotypes (VV, VL and LL) and the risk of infertility (p = 0.516). The genotype frequency and allele distribution of TNFα -308G/A polymorphism (GG, GA, AA genotypes and G, A alleles) were not associated with male infertility (p = 0.779 and p = 0.743 respectively).AR CAG repeat expansion might be one of the risk factors for idiopathic male infertility in Turkish men. Further studies investigating the association of male infertility with AR CAG, V89L and -308G/A polymorphisms are warranted to understand the possible associations among them.

Androgens, brain and androgen deprivation therapy in paraphilic disorders: A narrative review

“…It is assumed that shorter CAG repeat length was associated with higher androgen activity (Wong et al, 2019). The mean AR CAG repeat length was significantly longer in infertile men than in fertile men ( p = 0.015) (Metin Mahmutoglu et al, 2022). It could be interesting to evaluate the mean AR CAG repeat length in men with paraphilic disorders to evaluate androgen's activity and its impact in their pathophysiology.…”

Association of сarriage of the rs4646994 polymorphism of the ACE gene with obesity and androgen deficiency in men

“…В контексте с этими сведениями находятся результаты наших исследований о том, что имеется ассоциация аллеля D полиморфного локуса rs4646994 гена АСЕ с избыточной массой тела и АнД. Андрогены, участвующие в эндокринной регуляции сперматогенеза, необходимы для половой дифференцировки и мужского гаметогенеза, при этом биологическая функция андрогенов (в частности, тестостерона) зависит от андрогенного рецептора, кодируемого соответствующим геном, который содержит полиморфные тринуклеотидные повторы CAG, кодирующие полиглутаминовый участок в первом экзоне гена [30]. Имеются сведения, что полиморфизм повторов CAG связан с раком предстательной железы и мужским бесплодием.…”