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


METHODS
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.


CONCLUSIONS
Our findings support that specific genotypes in the progesterone receptor may be involved in tumor growth and metastasis but not in tumor initiation.
Renner
Stefan P
SP
Department of Gynaecology and Obstetrics, University-Clinic Erlangen, Laboratory for Molecular Medicine, Erlangen, Germany.
Strick
Reiner
R
Fasching
Peter A
PA
Oeser
Sonja
S
Oppelt
Peter
P
Mueller
Andreas
A
Beckmann
Matthias W
MW
Strissel
Pamela L
PL
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D015994:Incidence; D007889:Leiomyoma / Q000235:genetics* / Q000473:pathology; D016014:Linear Models; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011336:Probability; D011980:Receptors, Progesterone / Q000235:genetics*; D012016:Reference Values; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology
D011980:Receptors, Progesterone