Single nucleotide polymorphisms in the progesterone receptor gene and association with uterine leiomyoma tumor characteristics and disease risk

Abstract

Objective: Uterine benign leiomyomas result from proliferation of a single smooth-muscle cell and their growth is affected by steroid hormones via steroid hormone receptors. This investigation analyzed the +331G/A and the V600L single nucleotide polymorphisms in the progesterone receptor, and correlated their incidence with clinical and tumor parameters as well as disease risk.

Study design: Peripheral blood DNA was analyzed for the frequency of both progesterone receptor single nucleotide polymorphisms in 270 women with uterine leiomyomas compared with 163 control women without uterine leiomyomas.

Results: No correlation was found for both single nucleotide polymorphisms or the risk for developing myoma; however, statistical significant associations were found for single nucleotide polymorphism genotypes with specific clinical and tumor characteristics, eg, endometriosis, number of live births, menstrual cycle disorder, and leiomyoma focality.

Conclusion: Our findings support that specific genotypes in the progesterone receptor may be involved in tumor growth and metastasis but not in tumor initiation.