title: Increased frequency of the anti-mullerian-inhibiting hormone receptor 2 (AMHR2) 482 A>G polymorphism in women with polycystic ovary syndrome: relationship to luteinizing hormone levels.
abstract: BACKGROUND
  The polycystic ovary syndrome (PCOS) is a common and complex disease without a clear pattern of inheritance. Anti-Müllerian hormone (AMH) has an inhibitory effect on FSH-stimulated follicle growth. Serum AMH levels are higher in women with PCOS than in normo-ovulatory women. The elevated AMH levels may reflect abnormalities in AMH signaling.
  
  
  OBJECTIVE
  The purpose of this study was to evaluate the association of the anti-Müllerian hormone receptor 2 (AMHR2) -482 A>G polymorphism (rs2002555) with the pathophysiology of PCOS.
  
  
  METHODS
  AMHR2 -482 A>G polymorphism genotyping were performed in a large cohort of women with PCOS and in a healthy control group.
  
  
  METHODS
  A total of 858 Caucasian Greek women with PCOS and 309 healthy control women were studied.
  
  
  METHODS
  Genotyping and hormonal measurements were preformed.
  
  
  METHODS
  Hormone levels in women with PCOS were analyzed.
  
  
  RESULTS
  The AMHR2 polymorphism was more common in women with PCOS than in control women (P = .026). Homozygous AMHR2 -482 A>G gene polymorphisms (GG) were associated with decreased levels of LH (P = .003) and lower LH to FSH ratios (P = .01) in women with PCOS, as well as with lower prolactin levels (P = .004). No other associations related to AMHR2 -482 A>G polymorphisms were observed in women with PCOS or control women.
  
  
  CONCLUSIONS
  In this study, the role of the AMHR2 -482 A>G gene polymorphism in the pathogenesis of PCOS was suggested by the association of the variant with PCOS risk. Thus, further research is needed to elucidate a possible association of the AMHR2 -482 A>G gene polymorphism with AMH signaling and impaired ovarian function and its clinical significance in women with PCOS.
authors: Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University of Patras Medical School, University Hospital, 26500 Patras, Greece. neoklisg@hol.gr.
authors: Neoklis A
authors: NA
authors: Georgopoulos
authors: Eleni
authors: E
authors: Karagiannidou
authors: Vasiliki
authors: V
authors: Koika
authors: Nikolaos D
authors: ND
authors: Roupas
authors: Anastasia
authors: A
authors: Armeni
authors: Dimitra
authors: D
authors: Marioli
authors: Efstathios
authors: E
authors: Papadakis
authors: C K
authors: CK
authors: Welt
authors: Dimitrios
authors: D
authors: Panidis
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood*; D010060:Ovulation / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D018000:Receptors, Peptide / Q000235:genetics* / Q000378:metabolism; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D015398:Signal Transduction / Q000235:genetics; D055815:Young Adult
chemical_list: D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; C084621:anti-Mullerian hormone receptor; D007986:Luteinizing Hormone
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