title: Divergent effects of the 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness and anti-Müllerian hormone concentrations.
abstract: OBJECTIVE
  To investigate the influence of the 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation on serum anti-Müllerian hormone (AMH) concentrations and on the numbers of oocytes retrieved (NOR) following controlled ovarian hyperstimulation (COH).
  
  
  METHODS
  Prospective cohort study.
  
  
  METHODS
  University-based infertility clinic.
  
  
  METHODS
  Two hundred and seventy women undergoing COH for IVF with or without intracytoplasmic sperm injection.
  
  
  METHODS
  None.
  
  
  METHODS
  AMH levels were determined from blood samples collected after 10 days of GnRH superagonist treatment and before COH. The MTHFR 677C>T genotype was characterized by a TaqMan 5' nuclease assay.
  
  
  RESULTS
  AMH serum concentrations correlated significantly with the NOR in all individuals studied. Average (±SD) AMH levels of TT carriers (2.85±2.23 ng/mL) were significantly higher than those of homozygous CC (1.91±1.59 ng/mL) or heterozygous CT individuals (2.23±1.74 ng/mL). When evaluated by multiple regression analysis, AMH had a significant positive effect on NOR, whereas age and MTHFR 677TT genotype had significant negative effects.
  
  
  CONCLUSIONS
  The MTHFR 677TT genotype is associated with higher serum AMH concentrations and has a negative effect on NOR. This apparent paradox might be resolved in light of recent findings describing a negative feedback function of AMH in the coordination of follicle development.
authors.affiliation: Department of Obstetrics and Gynecology-Innenstadt, Ludwig-Maximilians University, Munich, Germany.
authors.forename: Roman
authors.initials: R
authors.lastname: Pavlik
authors.forename: Stephanie
authors.initials: S
authors.lastname: Hecht
authors.forename: Robert
authors.initials: R
authors.lastname: Ochsenkühn
authors.forename: Ulrich
authors.initials: U
authors.lastname: Noss
authors.forename: Peter
authors.initials: P
authors.lastname: Lohse
authors.forename: Christian J
authors.initials: CJ
authors.lastname: Thaler
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000097:blood*; D016009:Chi-Square Distribution; D005260:Female; D005300:Fertility Agents, Female / Q000627:therapeutic use*; D005307:Fertilization in Vitro; D005858:Germany; D006579:Heterozygote; D006720:Homozygote; D006785:Hospitals, University; D006801:Humans; D007246:Infertility / Q000097:blood / Q000503:physiopathology / Q000628:therapy*; D016014:Linear Models; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D054315:Oocyte Retrieval; D010053:Ovary / Q000187:drug effects* / Q000201:enzymology; D010062:Ovulation Induction; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D020554:Sperm Injections, Intracytoplasmic; D013997:Time Factors; D016896:Treatment Outcome; D014427:Twins
chemical_list: D005300:Fertility Agents, Female; D054304:Anti-Mullerian Hormone; D042965:Methylenetetrahydrofolate Reductase (NADPH2)