Endometriosis-associated Gene Polymorphisms in Women of Greek Origin

Endometriosis-associated Gene Polymorphisms in Women of Greek Origin

This ethnic specific association study analyzes 3 different single nucleotide polymorphisms and their respective roles in increasing the risk of endometriosis in women of Greek origin.

Key Points


  • This study seeks to see if certain single nucleotide polymorphisms (SNPs) are associated with increased risk of endometriosis in a population of women that are of Greek origin.
  • The SNPs (and their respective genetic loci) are as follows: rs7521902 (WNT4), rs10859871 (VEZT) and rs11031006 (FSHB).


  • Research has yet to elucidate the causes of endometriosis. It is believed that the heritability of the disease is 50%, yet it is unknown the impact of genetic and environmental factors on this heritability mentioned above. This study in particular hopes to shed some light on the genetic component and if successful, the results of this research can be used to create future targeted therapies for the disease.

What’s done here?

  • The study consists of 166 women with endometriosis, which was surgically diagnosed and histologically confirmed. Hundred and fifty women included as controls who had previously given birth to 2-5 children. The cases and controls were of Greek origin (self-reported), residing in a similar urban environment, and were unrelated to one another.
  • All participants provided whole blood in ethylenediaminetetraacetic acid containing tubes. A commercial kit was used to isolate the genomic DNA from the peripheral blood leukocytes found in the full blood.
  • Pre-made TaqMan SNP Genotyping assays were used for allelic discrimination of the 3 SNPs. PCR was also utilized, and following completion of the PCR process, the plates were read, and Quant StudioTM Real‐Time PCR Software was used for data analysis. For quality sake, the plots were reviewed individually, the assays were run with negative controls, and 10% of the samples were amplified twice for accuracy sake.
  • GraphPad Prism statistical program was used for the statistical analysis of the data.

Key results:

  • The AC genotype of rs7521902 (WNT4) and rs10859871 (VEZT) was found to be associated with endometriosis. It is important to note that this association was observed only with the AC genotype of rs7521902 in individuals with stage III and IV endometriosis.
  • There was a distribution difference between the endometriosis group and the control when it came to the distribution of the minor allele A and the AG genotype of rs11031006 (FSHB).
  • In short, this study showed that there was a genetic association between the rs11031006 SNP and endometriosis. Additionally, there was a consistent genotypic association with endometriosis in the following genes: WNT4 and VEZT.

Limitations of the study:

  • This study was only conducted with women from one population subset, so it is great for comparison, which is what the researchers wanted it for, but the results of the study may not apply to individuals from other ethnic groups. Additionally, the researchers only recruited participants from urban areas so the results may not apply to women of Greek origin that live outside these areas.

Lay Summary

Endometriosis research has yet to elucidate the genetic and environmental mechanisms that contribute to the rise of the disease. In their paper titled “The role of gene polymorphisms in endometriosis,” Matalliotakis et al. concentrate on the genetic component of the disease. This publication above, which can be found in Molecular Medicine Reports, examines if single nucleotide polymorphisms (SNPs) rs7521902, rs10859871, and rs11031006 mapped to WNT4, VEZT, and FSHB genetic loci respectively play any role in an individual’s risk for endometriosis. This study concentrates explicitly on women of Greek origin.

The study consisted of 166 women with endometriosis and 150 controls. All participants provided whole blood, and genomic DNA was isolated from those samples. TaqMan SNP Genotyping assays were used for the allelic discrimination of the 3 SNPs. PCR was the next step in the process and once it was completed the plates were read, and the data was subject to different types of analysis, including statistical analysis.

The results show that there was evidence of association for the AC genotypes for the following two SNPs: WNT4 rs7521902 and VEZT rs10859871. The rs7521902 association was only seen in participants with stage III and IV endometriosis. As far as the FSHB rs11031006 SNP is concerned, there were differences in the distribution of the AG genotype and the minor allele A for women with endometriosis compared to women without the disease. In summary, there is an allelic association of endometriosis when it comes to WNT4 and VEZT; however, there is a genetic association when it comes to rs11031006 SNP.

Research Source: https://www.spandidos-publications.com/10.3892/mmr.2017.7398/abstract

SNP genes alleles Greek


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