Polymorphisms of the Androgen Receptor Gene and the Estrogen Receptor Beta Gene Are Associated with Androgen Levels in Women

The 2001 study by Westberg et al. examined the association between polymorphisms in the androgen receptor (AR) and estrogen receptor β (ERβ) genes with serum androgen levels in a cohort of 270 premenopausal women. They found that women with fewer CAG repeats in the AR gene had higher serum androgen levels and lower luteinizing hormone (LH) levels, while the CA repeat polymorphism in the ERβ gene was associated with higher androgen and lower sex hormone-binding globulin (SHBG) levels. No significant association was found with the estrogen receptor α (ERα) gene. The study concluded that genetic variants in the AR and ERβ genes may influence androgen levels in women, which are important for health, but noted that the phase of the menstrual cycle and other genetic factors might also play a role in hormone regulation.