The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases
Authors' conclusion
In this large-scale study, we found that longer CAG and GGC repeats in the AR gene influence androgen resistance, elevate circulating testosterone level via a feedback loop, and play a role in some androgen-targeted tissues. Generally, however, circulating testosterone level is a more important determinant of androgen action in males than repeat lengths.
Study context
- Population
- European-ancestry male participants in the UK Biobank
- Participants
- 181,217 males
- Exposure
- Androgen receptor (AR) gene CAG and GGC repeat lengths vs androgen-related traits and diseases
- Outcome
- Associations of AR CAG and GGC repeat lengths with androgen-related traits and diseases
Methodological detailspopulation-based, UK Biobank, whole-genome and whole-exome sequencing, Repeat lengths quantified with ExpansionHunter
- Population-based
- UK Biobank
- Whole-genome and whole-exome sequencing
- Repeat lengths quantified with ExpansionHunter
Main finding
As reported in the abstract
- Both repeat lengths positively associated with circulating total testosterone and BMD
- CAG repeat length negatively associated with male-pattern baldness
- Effects relatively small; no association with most other outcomes
Observational data: associations, not effects.
Further findings
Total testosterone and outcomes, adjusted for repeat lengths
- Total testosterone associated with various outcomes; relationship not affected by adjustment for repeat lengths
Original publication
The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases. J Clin Endocrinol Metab. Published 3 May 2024. doi:10.
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