Polymorphism, Genetic Clinical Trial
Official title:
Genetic Polymorphism of the Androgen Receptor-Gene and Sexual Function in Middle Aged Women
It is known that with increasing age sexual desire is declining in women. Decreasing levels
of androgens are believed to have an influence, but cannot explain the loss of libido
completely. A possible explanation might be that the effect of the androgen is depending on
the functionality of the androgen receptor. It is known that this functionality is
genetically determined by the polymorphism of the androgen receptor gene. In the gene there
is a varying number of CAG-repeats: the longer the CAG-Repeat, the lower the functionality
of the androgen receptor, the lower the effect of the androgens. In this pilot study, the
investigators would like to invite 45 healthy heterosexual middle-aged women to the
University Hospital of Bern, where they answer questionnaires about their sexual function
and where they give a blood sample to assess the testosterone serum levels and the
genetically determined androgen receptor subtype.
The investigators believe that lower androgen levels and/or longer CAG-repeats in the
androgen receptor gene are related to lower libido scores in healthy middle-aged women.
Background
It is known that with increasing age sexual desire is declining in women. Multiple factors
are being discussed to have an influence on this topic, such as cultural, individual and
biological factors. Decreasing levels of sexual hormones and specifically androgens are
believed to have an influence, hence a lot of women benefit from a testosterone replacement
therapy. Yet the sole decline of androgen levels with inclining age cannot explain the loss
of libido completely.
A possible further factor might be the androgen receptor: It is known that the effect of the
androgen in its target cells is depending on the functionality of the androgen receptor.
This functionality is genetically determined by the polymorphism of the androgen receptor
gene: In the gene there is a sequence with a varying number of CAG-repeats. This CAG-repeat
is coding for a polyglutamine stretch in the androgen receptor which is responsible for the
binding of co-activator proteins. The better these co-activator proteins are bound to the
androgen receptor, the better the transcriptional activity of the latter. Previous studies
have shown that the longer the CAG-Repeat, the weaker the binding of co-activator proteins,
the lower the functionality of the receptor and therefore the lower the effects of the
androgen on the target cell. Given this circumstances the same level of androgen can have
different effects in two individuals.
Objective
In this pilot study, the investigators would like to correlate the testosterone serum
levels, the functionality of the androgen receptor and the libido in 45 healthy,
heterosexual middle-aged women.
Methods
45 healthy middle-aged women are being recruited and are being invited to come to the
University Hospital in Berne. Here they will answer standardised questionnaires about their
sexual function and libido and will give a blood sample to measure all the relevant
parameters (fasting, premenopausal women: 1.-5. day of cycle): Total Testosterone, SHBG,
Estrogen, DHEAS, FSH, LH, CAG repeats of the androgen receptor gene, TSH, fT3, fT4,
Prolactin, Ferritin, CRP, Hemoglobin.
A statistician will then assess the collected data. No interventions are planned.
The following collaborators are providing support for this study: Dr. rer. nat. Ulrich
Stefenelli, Würzburg, Germany, and Dr. med. Stefan Schmid, Rheinfelden, Switzerland.
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Observational Model: Case-Only, Time Perspective: Cross-Sectional
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