Fertility and Sterility
Volume 94, Issue 4 , Pages 1244-1248, September 2010

Association study of AMH and AMHRII polymorphisms with unexplained infertility

  • Chiara Rigon, Ph.D.

      Affiliations

    • Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy
    • ,
  • Alessandra Andrisani, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, University of Padova, Padova, Italy
    • ,
  • Monica Forzan, Ph.D.

      Affiliations

    • Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy
    • ,
  • Donato D'Antona, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, University of Padova, Padova, Italy
    • ,
  • Alice Bruson, Ph.D.

      Affiliations

    • Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy
    • ,
  • Erich Cosmi, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, University of Padova, Padova, Italy
    • ,
  • Guido Ambrosini, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, University of Padova, Padova, Italy
    • ,
  • Gian Mario Tiboni, M.D.

      Affiliations

    • Department of Medicine and Science of Aging, University of Chieti and Pescara, Chieti and Pescara, Italy
    • ,
  • Maurizio Clementi, M.D.

      Affiliations

    • Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy
    • Corresponding Author InformationReprint requests: Maurizio Clementi, M.D., Genetica Clinica Epidemiologica, Department of Paediatrics, Via Giustiniani 3, 35128 Padova, Italy (FAX: 00390498211425).

Received 20 February 2009; received in revised form 7 April 2009; accepted 8 May 2009. published online 19 June 2009.

Objective

To investigate the association of AMH and AMHRII polymorphisms with reproductive abilities in a sample of women with idiopathic infertility.

Design

Case-control study.

Setting

University Department of Obstetrics and Gynecology, and University Unit of Clinical Genetics.

Patient(s)

76 women with idiopathic sterility and 100 fertile women as controls.

Intervention(s)

Genotyping was performed by high-resolution melt analysis.

Main Outcome Measure(s)

Genotype distribution and allele frequency of AMH and AMHRII polymorphisms. Reconstruction of haplotype alleles to evaluate the linkage disequilibrium between single nucleotide polymorphisms.

Result(s)

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.

Conclusion(s)

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.

Key Words: Antimüllerian hormone, AMH receptor, high-resolution melt analysis, polymorphisms, unexplained infertility

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 C.R. has nothing to disclose. A.A. has nothing to disclose. M.F. has nothing to disclose. D.D. has nothing to disclose. A.B. has nothing to disclose. E.C. has nothing to disclose. G.A. has nothing to disclose. G.M.T. has nothing to disclose. M.C. has nothing to disclose.

PII: S0015-0282(09)01101-7

doi:10.1016/j.fertnstert.2009.05.025

Fertility and Sterility
Volume 94, Issue 4 , Pages 1244-1248, September 2010

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