title: Analyzing the possible involvement of anti-Müllerian hormone and anti-Müllerian hormone receptor II single nucleotide polymorphism in infertility.
abstract: OBJECTIVE
  We performed TaqMan genotyping assays of anti-Mullerian hormone (AMH) and anti-Mullerian hormone receptor type II (AMHRII) single nucleotide polymorphisms (SNPs) in order to investigate how their frequency and distribution affect infertility treatment outcome.
  
  
  METHODS
  Eighty Japanese women (advanced age: n = 51, endometriosis: n = 18, male infertility as a control: n = 11) who undertook ART were included in the study, and all couples underwent a full infertility investigation protocol. In order to investigate the natural distribution of SNPs, a naturally pregnant group of 28 subjects was recruited from among women who conceived naturally and subsequently delivered in our department. Genomic DNA was extracted from peripheral blood and genotyping was conducted by TaqMan genotyping assay. The relationship of AMH and AMHRII SNPs and treatment outcome in infertile women. Comparison of allele and genotype frequencies of infertile patients with naturally pregnant women.
  
  
  RESULTS
  AMHRII -482 A>G homozygote mutation was complicated with ISV 5-6 C>T homozygote mutation and showed a significantly lower oocyte retrieval rate compared with a wild type. Two of 3 cases of AMHRII -482 A>G homozygote mutation were poor responders, and the distribution and frequency of each allele of naturally pregnant women showed no statistical difference compared with infertile women.
  
  
  CONCLUSIONS
  This study revealed the possible involvement of AMHRII -482 A>G polymorphism on the malfunction of follicular development in Japanese women.
authors.affiliation: Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yoshida
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Yamashita
authors.forename: Natsuho
authors.initials: N
authors.lastname: Saito
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Ono
authors.forename: Hikaru
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Yoko
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hayashi
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Terai
authors.forename: Masahide
authors.initials: M
authors.lastname: Ohmichi
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004715:Endometriosis / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D008423:Maternal Age; D009154:Mutation; D054315:Oocyte Retrieval / Q000706:statistics & numerical data; D010062:Ovulation Induction; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; 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; D054304:Anti-Mullerian Hormone