Androgen receptor epigenetic variations influence early follicular phase gonadotropin levels.
OBJECTIVE
we examined the influence of the androgen receptor gene (AR) CAG microsatellite (AR-CAG) repeat polymorphism and X-chromosome inactivation (XCI) pattern on ovarian reserve markers (follicle stimulating hormone (FSH) and antral follicle count on menstrual cycle day 3-5) and disease etiology in patients with polycystic ovarian syndrome (PCOS) or premature ovarian failure (POF).


METHODS
case-control study. Population. In all, 32 women with PCOS, 26 women with POF and 79 controls were investigated.


METHODS
AR-CAG and XCI were analyzed using polymerase chain reaction-based assays following DNA digestion with the methylation-sensitive restrictase HpaII.


METHODS
distribution of AR-CAG alleles and XCI patterns.


RESULTS
POF patients had shorter AR-CAG microsatellites than controls. AR-CAG microsatellite length was negatively associated with serum dehydroepiandrosterone sulfate level. The magnitude of XCI skewing was negatively and positively correlated with luteinizing hormone (LH) and FSH serum levels, respectively, during the early follicular phase, but showed no correlation with the number of early antral follicles.


CONCLUSIONS
our results suggest that AR-CAG variations and XCI pattern exert an effect on FSH and LH values, and also have the potential to influence the etiopathogenesis of POF.
Department of Obstetrics and Gynecology, University of Tartu, Tartu, Estonia. mail: triin.laisk@ut.ee
Triin
T
Laisk
Kadri
K
Haller-Kikkatalo
Margit
M
Laanpere
Ulle
U
Jakovlev
Maire
M
Peters
Helle
H
Karro
Andres
A
Salumets
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D044127:Epigenesis, Genetic; D005260:Female; D005498:Follicular Phase / Q000235:genetics*; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006062:Gonadotropins / Q000097:blood* / Q000235:genetics; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood / Q000235:genetics; D018895:Microsatellite Repeats; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*; D012016:Reference Values; D018570:Risk Assessment; D049951:X Chromosome Inactivation / Q000235:genetics*
C410798:AR protein, human; D006062:Gonadotropins; D011944:Receptors, Androgen; D007986:Luteinizing Hormone