Polymorphisms of the androgen receptor gene and the estrogen receptor betagene are associated with androgen levels in women

To elucidate the possible role of genetic variation in androgen receptor (A R), estrogen receptor alpha (ER alpha), and ER beta on serum androgen level s in premenopausal women, the CAG repeat polymorphism of the AR gene, the T A repeat polymorphism of the ER alpha gene, and the CA repeat polymorphism of the ER beta gene were studied in a population-based Cohort of 270 women. Total testosterone, free testosterone, dehydroepiandrosterone sulfate, and rostenedione, 17-hydroxyprogesterone, 3 alpha -androstanediol glucuronide, 17 beta -estradiol, LH, FSH, and sex steroid hormone-binding globulin (SHBG )were measured in serum samples obtained in the follicular phase of the men strual cycle. Women with relatively few CAG repeats in the AR gene, resulti ng in higher transcriptional activity of the receptor, displayed higher lev els of serum androgens, but lower levels of LII, than women with longer CAG repeat sequences. The CA repeat of the ER beta gene also was associated wi th androgen and SHBG levels; women with relatively short repeat regions hen ce displayed higher hormone levels and lower SHBG; levels than those with m any CA repeats. In contrast, the TA repeat of the ER alpha gene was not ass ociated with the levels of any of the hormones measured. Our results sugges t that the serum levels of androgens in premenopausal women may be influenc ed by variants of the AR gene and the ER beta gene, respectively.