Identification and functional study of a new FSH receptor gene mutation in women affected by polycystic ovary syndrome (PCOS)
E. FerrariniFrancesco OrioStefano PalombaTeresa CascellaAntonio DimidaBiase S diDonato LabellaPatrizia AgrettiMarco Giuseppina DeElena GianettiPaolo VittiAnnamaria ColaoG. LombardiEnrico PucciAldo PincheraMassimo Tonacchera
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Keywords:
Identification
Follicle-stimulating hormone receptor
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hirsutism
Hyperandrogenism
Anovulation
Androgen Excess
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Anovulation
hirsutism
Etiology
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Hyperandrogenism
Free androgen index
Anti-Müllerian hormone
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Background: Polycystic ovary syndrome (PCOS) is an endocrine disorder and the criteria are specified by common complex genetic hyperandrogenism, oligomenorrhea or amenorrhea and polycystic ovary morphology.It is a leading cause of female infertility.The prevelance of PCOS among reproductive age women has been estimated to be 4-12%.The association between PCOS and FSH receptor (FSHR) polymorphism attracts wide attention.The aim of the present study was to evaluate whether polymorphism of FSHR at Ala307Thr codon is associated with PCOS and with
Hyperandrogenism
Follicle-stimulating hormone receptor
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Polycystic ovary syndrome (PCOS) is the most frequentendocrinopathy present in 6–15 % of reproductive-agewomen [1]. It is a heterogenous syndrome [2, 3] andaccording to the Rotterdam Criteria [4], PCOS is recog-nized in women who have two of three symptoms: chronicamenorrhea, clinical or biochemical hyperandrogenism andthe ovarian morphology of PCO in ultrasound imaging,after other reasons have been excluded.Disorders in the function of adipose tissue connectedwith adipocyte activity, that is, the secretion of the adi-pokines, adiponectin and retinoid binding protein 4(RBP4), can be the main factors influencing the metabolicdisorders frequently observed in PCOS women [5, 6].The etiology of this disease has not been completelyexplained, thus far. Among factors impair the functioningof the hypothalamic-pituitary and ovary axis hormones andtheir receptors, the frequent genetic variant in form ofsingle nucleotide polymorphisms (SNPs) was undoubtedlyproven in genetic association studies to identify diseasesusceptibility loci. A genome-wide association study(GWAS) in Chinese women with PCOS confirmed that aregion on chromosome 2p16.3 is associated with PCOS [7].The results of a genetic association study published in 2013confirmed that this region is also associated with PCOS inUS Caucasian women [8]. Among the hundreds of SNPswhich were localized in the FSHR gene, only five wereidentified in the coding region: in exon 10, at codons 307,329, 524, 665, and 680. Of these, two (rs6165 and rs6166),which are in linkage disequilibrium [9], were characterizedin various populations.The anti-Mu¨llerian hormone (AMH) produced in gran-ulosa cells of follicles in ovary is also an important regu-lator of folliculogenesis, which may play a role in thepathophysiology of PCOS [10]. It has been proven that twogenetic variants of the AMH gene and AMHRII receptorgene influence the internal sensitivity of the ovary to FSHand aromatase activity [11].Therefore, in this context, we decided to investigatefrequency of the SNPs in the FSHR, AMH, and AMHRIIgenes in a population of Polish women with PCOS, and toevaluate the possible association between these variantsand susceptibility to PCOS and to concentrations of theadipokines, adiponectin, and RBP4.Materials and MethodsPCOS and controls womenThe study group included 294 premenopausal Caucasianpatients with PCOS, and 78 women with regular menorrheaand without hirsutism. The body mass index (BMI) and thewaist–hip ratio (WHR) was calculated. Hormonal
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Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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