title: Assessment of FSHR variants and antimüllerian hormone in infertility patients with a reduced ovarian response to gonadotropin stimulation.
abstract: OBJECTIVE
  To study women with a poor response to ovarian hormone stimulation, known as low responders. Genetic defects in the FSH receptor gene (FSHR) were analyzed as well as antimüllerian hormone (AMH) for ovarian reserve.
  
  
  METHODS
  Retrospective cohort study.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  Two hundred fifty-nine patients total: 74 low responders; 88 patients receiving assisted reproduction therapy (ART) with a normal ovarian response; and 97 women with a normal fertility status.
  
  
  METHODS
  DNA from patients was analyzed using real-time polymerase chain reaction. Serum concentrations of AMH were assessed using ELISA.
  
  
  METHODS
  The FSHR variants Asn680Ser (rs6166), Ala189Val (rs121909658), Ile160Thr (rs121909659), Thr449Ile (rs28928870) and the serum AMH concentrations were assessed.
  
  
  RESULTS
  With the exception of the frequent Asn680Ser polymorphism, no homozygotic SNPs of FSHR were found. In the group of ART patients, Thr160/Ile160 variants were more frequent in comparison with women with normal fertility. The Ser680/Ser680 was more frequent in ART patients than in women with normal reproductive function. The rate of live births was markedly reduced, particularly in the low responder group. No difference was noted in the distribution of the Ala189Val and Thr449Ile variant. Low serum AMH values were observed in 75% of the low responder group.
  
  
  CONCLUSIONS
  FSHR gene variations such as Asn680Ser, Ala189Val, Thr449Ile, and Ile160Thr did not seem to be a decisive factor of poor response to fertility treatment, whereas the low ovarian reserve determined by AMH is considered more crucial.
authors.affiliation: Department of Gynaecology and Obstetrics, Uri Cantonal Hospital, Altdorf, Switzerland. helge.binder@ksuri.ch
authors.forename: Helge
authors.initials: H
authors.lastname: Binder
authors.forename: Reiner
authors.initials: R
authors.lastname: Strick
authors.forename: Olga
authors.initials: O
authors.lastname: Zaherdoust
authors.forename: Ralf
authors.initials: R
authors.lastname: Dittrich
authors.forename: Miklos
authors.initials: M
authors.lastname: Hamori
authors.forename: Matthias W
authors.initials: MW
authors.lastname: Beckmann
authors.forename: Patricia G
authors.initials: PG
authors.lastname: Oppelt
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D016009:Chi-Square Distribution; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005300:Fertility Agents, Female / Q000627:therapeutic use*; D005307:Fertilization in Vitro; D005787:Gene Frequency; D014644:Genetic Variation; D005858:Germany; D006062:Gonadotropins / Q000627:therapeutic use*; D006801:Humans; D007247:Infertility, Female / Q000097:blood / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D050498:Live Birth; D010060:Ovulation / Q000187:drug effects* / Q000235:genetics; D010062:Ovulation Induction / Q000379:methods*; D010865:Pilot Projects; D011247:Pregnancy; D018873:Pregnancy Rate; D060888:Real-Time Polymerase Chain Reaction; D011962:Receptors, FSH / Q000235:genetics*; D012189:Retrospective Studies; D020554:Sperm Injections, Intracytoplasmic; D017211:Treatment Failure
chemical_list: D015415:Biomarkers; D005300:Fertility Agents, Female; D006062:Gonadotropins; D011962:Receptors, FSH; D054304:Anti-Mullerian Hormone