title: Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women.
abstract: BACKGROUND
  In mice, anti-Müllerian hormone (AMH) inhibits primordial follicle recruitment and decreases FSH sensitivity. Little is known about the role of AMH in human ovarian physiology. We hypothesize that in women AMH has a similar role in ovarian function as in mice and investigated this using a genetic approach.
  
  
  METHODS
  The association of the AMH Ile(49)Ser and the AMH type II receptor (AMHR2) -482 A > G polymorphisms with menstrual cycle characteristics was studied in a Dutch (n = 32) and a German (n = 21) cohort of normo-ovulatory women.
  
  
  RESULTS
  Carriers of the AMH Ser(49) allele had higher serum estradiol (E(2)) levels on menstrual cycle day 3 when compared with non-carriers in the Dutch cohort (P = 0.012) and in the combined Dutch and German cohort (P = 0.03). Carriers of the AMHR2 -482G allele also had higher follicular phase E(2) levels when compared with non-carriers in the Dutch cohort (P = 0.028), the German cohort (P = 0.048) and hence also the combined cohort (P = 0.012). Women carrying both AMH Ser(49) and AMHR2 -482G alleles had highest E(2) levels (P = 0.001). For both polymorphisms no association with serum AMH or FSH levels was observed.
  
  
  CONCLUSIONS
  Polymorphisms in the AMH and AMHR2 genes are associated with follicular phase E(2) levels, suggesting a role for AMH in the regulation of FSH sensitivity in the human ovary.
authors.affiliation: Department of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, The Netherlands. m.kevenaar@erasmusmc.nl
authors.forename: Marlies E
authors.initials: ME
authors.lastname: Kevenaar
authors.forename: Axel P N
authors.initials: AP
authors.lastname: Themmen
authors.forename: Joop S E
authors.initials: JS
authors.lastname: Laven
authors.forename: Barbara
authors.initials: B
authors.lastname: Sonntag
authors.forename: Sharon Lie
authors.initials: SL
authors.lastname: Fong
authors.forename: André G
authors.initials: AG
authors.lastname: Uitterlinden
authors.forename: Frank H
authors.initials: FH
authors.lastname: de Jong
authors.forename: Huibert A P
authors.initials: HA
authors.lastname: Pols
authors.forename: Manuela
authors.initials: M
authors.lastname: Simoni
authors.forename: Jenny A
authors.initials: JA
authors.lastname: Visser
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D054304:Anti-Mullerian Hormone; D004958:Estradiol / Q000097:blood*; D005260:Female; D005498:Follicular Phase / Q000097:blood* / Q000235:genetics*; D005787:Gene Frequency; D006023:Glycoproteins / Q000097:blood / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000737:chemistry / Q000235:genetics; D011110:Polymorphism, Genetic; D018000:Receptors, Peptide / Q000097:blood / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta; D012694:Serine / Q000737:chemistry / Q000235:genetics; D013735:Testicular Hormones / Q000097:blood / Q000235:genetics*
chemical_list: D006023:Glycoproteins; D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; D013735:Testicular Hormones; C084621:anti-Mullerian hormone receptor; D007532:Isoleucine; D012694:Serine; D004958:Estradiol; D054304:Anti-Mullerian Hormone