Analysis of estrogen receptor (ERalpha and ERbeta) and progesterone receptor (PR) polymorphisms in uterine leiomyomas

Leiomyomas are the most common tumors in women, found in up to 30% of women in active reproductive life. These tumors are estrogen- and progestin-responsive. In fact, they do not occur before menarche, undergoing rapid increase in size during pregnancy with consequent fetal wastage. Conversely, they can regress or even calcify after menopause or castration. Given the central role of sex steroids in uterus trophism, estrogen and progesterone receptors are important mediators of hormonal bioeffects, and the genes encoding these receptors become easy candidates for uterine proliferative disorders.

We examined the distribution of common polymorphisms of ERalpha, ERbeta and PR genes in 413 Caucasian females: 225 post-menopausal healthy controls and 188 premenopausal women affected by uterine leiomyomas. The polymorphisms were evaluated both in constitutive and tissue DNA by PCR amplification, specific endonuclease digestion, and then detection with agarose or polyacrylamide gel electrophoresis.

The observed allele frequencies did not deviate from the expected Hardy-Weinberg distribution in our population. In case-control analysis, no variant frequency of the studied genes differed significantly between control subjects and patients.

Polymorphisms in the genes encoding for ERalpha, ERbeta and PR did not correlate with the occurrence of uterine leiomyomas in our Caucasian population.