Single Nucleotide Polymorphisms Play a Role in Endometriosis Related Infertility

Single Nucleotide Polymorphisms Play a Role in Endometriosis Related Infertility

Researchers try to understand endometriosis related infertility by analyzing Single Nucleotide Polymorphisms (SNPs) in the GDF-9, AMH and AMHR2 gene.

Key Points


  • This study seeks to understand the relationship between endometriosis related infertility and the incidence of polymorphisms in the following genes: Growth differentiation factor-9 (GDF-9) gene, anti-Müllerian hormone (AMH) gene, and AMH receptor (AMHR2) gene.


  • Women with endometriosis struggle with infertility in their child bearing years, which bars them from starting their family and living their ideal life. Understanding the molecular changes that cause endometriosis related infertility would give researchers to tools to create more efficient therapies for women with endometriosis looking to conceive.

What’s done here?

  • The participants of the study include 74 women with peritoneal endometriosis and infertility caused by endometriosis. On the other hand, the 70 women in the control group were fertile and were undergoing tubal ligation.
  • All participants were required to give peripheral blood on the third day of their menstrual cycle. This blood was used to determine serum FSH levels and was later used for biochemical analysis.
  • Participants were also required to give whole blood. This blood was used for genotyping.
  • The GDF-9 was analyzed using PCR, amplification, electrophoresis, purification, and Sanger method sequencing. The sequences were then compared to a reference from NCBI.
  • The AMH and AMHR2 genes were analyzed using TaqMan Allelic Discrimination.

Key results:

  • The SNPs found in the GDF-9 gene and the one SNP of the AMHR2 gene did not correspond with endometriosis related infertility. Additionally FSH levels were comparable in the experimental and control group.
  • The results show that the AMH gene polymorphism, p.Ile49Ser, is related to endometriosis related infertility.

Limitations of the study:

  • The study only recruited individuals with one form of endometriosis, thus the results of this experiment may not be applicable for other manifestations of the illness.
  • The authors of the study also state that the absence of functional tests prevents further certification of the hypothesis; however, it is important to note that one of the authors’ current research projects attempt to circumvent this issue.

Lay Summary

In their paper titled “Endometriosis-associated infertility: GDF-9, AMH, AMHR2 genes polymorphisms,” De Conto et al. attempt to elucidate the mechanism that leads to endometriosis-related infertility. In short, the authors hypothesize that there is a connection between polymorphisms in the Growth differentiation factor-9 (GDF-9) gene, anti-Müllerian hormone (AMH) gene, and AMH receptor (AMHR2) that can subsequently lead to endometriosis-associated infertility. The details of this study are published within the Journal of Assisted Reproduction and Genetics.

The experimental group for this experiment consisted of 74 participants with endometriosis related infertility and the control group was made up of 70 fertile women undergoing tubal ligation. Peripheral and whole blood samples were collected from all the participants for biochemical analyses. These samples were used to establish the single nucleotide polymorphisms (SNPs) corresponding to the GDF-9 gene, AMHR2, and the AMH gene. Direct sequencing was used for the GDF-9 gene SNPs whereas genotyping with TaqMan Allelic Discrimination was used to determine the SNPs for the AMH gene and AMHR2. The researchers then proceeded to compare the incidence of SNPs for the aforementioned genes with the incidence of endometriosis related infertility.

The results show that endometriosis related infertility does not correlate with polymorphisms found in the GDF-9 and AMHR2 genes. On the other hand, there was an increase in the incidence on endometriosis related infertility when the individual in question had polymorphisms in their AMH gene.

Research Source:

AMH GDF-9 AMHR2 infertility SNP


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