Abstract
In the last decade, ample evidence has demonstrated the growing importance of androgen receptor (AR) CAG repeat polymorphism in andrology. This genetic parameter is able to condition the peripheral effects of testosterone and therefore to influence male sexual function and fertility, cardiovascular risk, body composition, bone metabolism, the risk of prostate and testicular cancer, the psychiatric status, and the onset of neurodegenerative disorders. In this review, we extensively discuss the literature data and identify a role for AR CAG repeat polymorphism in conditioning the systemic testosterone effects. In particular, our main purpose was to provide an updated text able to shed light on the many and often contradictory findings reporting an influence of CAG repeat polymorphism on the targets of testosterone action.
Highlights
Androgen receptor (AR) mediates the peripheral effects of testosterone
While it is controversial whether CAG repeat polymorphism may affect bone metabolism under physiological conditions, shorter androgen receptor (AR) CAG tract was found to be independently associated with greater improvement of bone mineral density (BMD) in hypogonadotropic hypogonadism after treatment with testosterone replacement therapy [70]
In 2015, a large body of evidence indicated an important role for AR CAG polymorphism in conditioning the peripheral effect of testosterone, even if its contribution warrants further assessment because of the many controversial findings in each androgen-related action
Summary
Androgen receptor (AR) mediates the peripheral effects of testosterone. Exon 1 of the AR gene contains a polymorphic sequence of CAG repeat, which usually varies in number from 10 to 35, and which encodes polyglutamine stretches of AR transactivation domain [2, 3] (Figure 1). Ethnic differences in CAG repeat length of AR gene exist between African, Caucasian, and Asian populations. We aim at discussing the literature data indicating a role for AR CAG repeat polymorphism in conditioning the peripheral effects of testosterone. Our main purpose was to provide an updated contribution able to shed light on the many and often contradictory findings on the influence of CAG repeat polymorphism on the targets of testosterone action (Figure 2)
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