title: Association study of anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms with idiopathic primary ovarian insufficiency.
abstract: OBJECTIVE
  Are the genetic polymorphisms of the anti-Müllerian hormone (AMH) and anti-Müllerian hormone type II receptor (AMHR2) genes associated with idiopathic primary ovarian insufficiency (POI) in a Korean population?
  
  
  CONCLUSIONS
  The distribution of the AMH and the AMHR2 polymorphisms in a Korean POI population was not significantly different from controls.
  
  
  BACKGROUND
  AMH plays an important role in regulating both the primordial follicle recruitment and the cyclic selection of the antral follicles. The AMHR2 -482A>G polymorphism was associated with an earlier menopause and nulliparous women with the GG genotype had a 2.6 years earlier onset of menopause compared with the AA genotype women. Therefore, genetic variants in the AMH signal transduction pathway might affect the ovarian function of women.
  
  
  METHODS
  Case-control study. The subjects consisted of 211 idiopathic POI patients and 233 post-menopausal controls.
  
  
  METHODS
  The frequency of the AMH Ile(49)Ser and AMHR2 -482A>G polymorphisms was analyzed in 211 patients with idiopathic POI and in 233 post-menopausal controls, and we also analyzed clinical characteristics, such as age at the time of POI and LH, FSH as well as estradiol levels according to the specific genotype. Genotyping for the AMH Ile(49)Ser and the AMHR2 -482A>G polymorphisms was performed by a minor groove binder primer/probe Taqman assay.
  
  
  RESULTS
  The genotype distributions and allele frequencies for the AMH Ile(49)Ser and the AMHR2 -482A>G polymorphisms were similar between the POI patients and the controls. Within POI population, the AMH Ile(49)Ser and the AMHR2 -482A>G polymorphisms were not associated with age at the time of POI and LH, FSH as well as estradiol levels. Haplotype analysis also showed no significant difference between groups.
  
  
  CONCLUSIONS
  Study is limited to a Korean population.
  
  
  CONCLUSIONS
  Our findings suggest that genetic variants in the AMH signal transduction pathway may not influence the susceptibility of idiopathic POI. This is the first report on the association between the AMH and AMHR2 polymorphisms and idiopathic POI.
  
  
  BACKGROUND
  No conflict of interest exists. This study was supported by a grant of Seoul National University Hospital Research Fund (04-2011-0870).
  
  
  BACKGROUND
  N/A.
authors.affiliation: Department of Obstetrics and Gynecology, Graduate School of Medicine, Dongguk University, Seoul, Republic of Korea.
authors.forename: S H
authors.initials: SH
authors.lastname: Yoon
authors.forename: Y M
authors.initials: YM
authors.lastname: Choi
authors.forename: M A
authors.initials: MA
authors.lastname: Hong
authors.forename: J J
authors.initials: JJ
authors.lastname: Kim
authors.forename: G H
authors.initials: GH
authors.lastname: Lee
authors.forename: K R
authors.initials: KR
authors.lastname: Hwang
authors.forename: S Y
authors.initials: SY
authors.lastname: Moon
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005787:Gene Frequency; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008594:Menopause, Premature / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic; D017698:Postmenopause / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D018000:Receptors, Peptide / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; C084621:anti-Mullerian hormone receptor; D004958:Estradiol; D054304:Anti-Mullerian Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
keywords: AMH; AMHR2; polymorphism; primary ovarian insufficiency