title: Association study of AMH and AMHRII polymorphisms with unexplained infertility.
abstract: OBJECTIVE
  To investigate the association of AMH and AMHRII polymorphisms with reproductive abilities in a sample of women with idiopathic infertility.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  University Department of Obstetrics and Gynecology, and University Unit of Clinical Genetics.
  
  
  METHODS
  76 women with idiopathic sterility and 100 fertile women as controls.
  
  
  METHODS
  Genotyping was performed by high-resolution melt analysis.
  
  
  METHODS
  Genotype distribution and allele frequency of AMH and AMHRII polymorphisms. Reconstruction of haplotype alleles to evaluate the linkage disequilibrium between single nucleotide polymorphisms.
  
  
  RESULTS
  Allele frequencies of -482 A>G, IVS 5-6 C>T, IVS 10+77 A>G, 146T>G polymorphisms are statistically significantly different in infertile patients compared with controls.
  
  
  CONCLUSIONS
  Genetic variants of AMH and AMHRII genes seem to be associated with infertility, suggesting a role in the pathophysiology of normo-estrogenic and normo-ovulatory infertility. A clearer understanding of their function in ovarian physiology may help clinicians to find a role for antimüllerian hormone measurement in the field of reproductive medicine.
authors.affiliation: Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Rigon
authors.affiliation: Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Andrisani
authors.affiliation: Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Forzan
authors.affiliation: Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
authors.forename: Donato
authors.initials: D
authors.lastname: D'Antona
authors.affiliation: Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy.
authors.forename: Alice
authors.initials: A
authors.lastname: Bruson
authors.affiliation: Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
authors.forename: Erich
authors.initials: E
authors.lastname: Cosmi
authors.affiliation: Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
authors.forename: Guido
authors.initials: G
authors.lastname: Ambrosini
authors.affiliation: Department of Medicine and Science of Aging, University of Chieti and Pescara, Chieti and Pescara, Italy.
authors.forename: Gian Mario
authors.initials: GM
authors.lastname: Tiboni
authors.affiliation: Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy. Electronic address: maurizio.clementi@unipd.it.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; 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