Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms

J Assist Reprod Genet. 2017 Dec;34(12):1667-1672. doi: 10.1007/s10815-017-1026-z. Epub 2017 Aug 22.


Purpose: The purpose of this paper is to determine whether there is a correlation between polymorphisms in the growth differentiation factor-9 (GDF-9) gene and anti-Müllerian hormone (AMH) gene and its receptor, AMHR2, and endometriosis-associated infertility.

Methods: This is a case-control study to evaluate whether there is a correlation between polymorphisms in the GDF-9 gene (SNPs determined by direct sequencing), AMH gene, AMHR2 (both SNPs determined by genotyping using TaqMan Allelic Discrimination), and endometriosis-associated infertility. The study included 74 infertile women with endometriosis and 70 fertile women (tubal ligation) as a control group.

Results: Patient age and the mean FSH levels were similar between the infertile with endometriosis and fertile without endometriosis groups. The frequency of genotypes between the groups for GDF-9 gene polymorphisms did not show statistical significance, nor did the AMHR2 gene polymorphism. However, the AMH gene polymorphism did show statistical significance, relating the polymorphic allele with infertility in endometriosis.

Conclusions: We demonstrate that an SNP in the AMH gene is associated with infertility in endometriosis, whereas several SNPs in the GDF-9 gene and the - 482A G SNP in the AMHR2 gene were found to be unrelated.

Keywords: Anti-Mullerian hormone; Endometriosis; Growth differentiation factor 9; Infertility; Polymorphism.

MeSH terms

  • Adult
  • Anti-Mullerian Hormone / genetics*
  • Case-Control Studies
  • Endometriosis / complications*
  • Female
  • Genotype
  • Growth Differentiation Factor 9 / genetics*
  • Humans
  • Infertility, Female / etiology*
  • Infertility, Female / pathology
  • Polymorphism, Single Nucleotide*
  • Receptors, Peptide / genetics*
  • Receptors, Transforming Growth Factor beta / genetics*


  • GDF9 protein, human
  • Growth Differentiation Factor 9
  • Receptors, Peptide
  • Receptors, Transforming Growth Factor beta
  • anti-Mullerian hormone receptor
  • Anti-Mullerian Hormone