title: The importance of ERα and ERβ gene polymorphisms in PCOS.
abstract: Estrogens act through binding to estrogen receptor α (ERα) and β (ERβ). Studies in knockout mice have shown that the absence of ERα leads to the polycystic ovary syndrome (PCOS) phenotype. Furthermore, the expression of ERβ gene is lower in follicles derived from women with PCOS compared with healthy women. The aim of this study was to investigate the importance of ERα and ERβ gene polymorphisms in PCOS. A cohort of 180 women with PCOS and 140 healthy controls were recruited, and the PvuII and XbaI polymorphisms of ERα, as well as, the AluI and RsaI polymorphisms of ERβ were genotyped. No difference was found in the distribution of these polymorphisms between patients and healthy controls. However, in PCOS women, carriers of TC and TT genotypes of PvuII polymorphism had lower fasting glucose to insulin ratio compared with carriers of CC genotype (p = 0.029). In addition, the presence of AA genotype of XbaI polymorphism was associated with lower levels of follicle-stimulating hormone (FSH) compared with the presence of AG and GG genotypes (p = 0.03). The association of ERα polymorphisms with insulin resistance indices and FSH levels emphasizes the importance of ERα as a genetic modifier of the PCOS phenotype.
authors.affiliation: Department of Endocrinology, University of Ioannina, Ioannina, Greece.
authors.forename: Xita
authors.initials: X
authors.lastname: Nectaria
authors.forename: Lazaros
authors.initials: L
authors.lastname: Leandros
authors.forename: Georgiou
authors.initials: G
authors.lastname: Ioannis
authors.forename: Tsatsoulis
authors.initials: T
authors.lastname: Agathocles
mesh_terms: D000293:Adolescent; D000328:Adult; D001786:Blood Glucose / Q000032:analysis; D015331:Cohort Studies; D047628:Estrogen Receptor alpha / Q000235:genetics* / Q000378:metabolism; D047629:Estrogen Receptor beta / Q000235:genetics* / Q000378:metabolism; D005260:Female; D043373:Follicle Stimulating Hormone, Human / Q000097:blood*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006115:Greece; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance; D007962:Leukocytes / Q000378:metabolism; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D001786:Blood Glucose; C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D043373:Follicle Stimulating Hormone, Human; D007328:Insulin