The role of gene polymorphisms in endometriosis

Matalliotakis,Michail; Zervou,Maria  I.; Matalliotaki,Charoula; Rahmioglu,Nilufer; Koumantakis,George; Kalogiannidis,Ioannis; Prapas,Ioannis; Zondervan,Krina; Spandidos,Demetrios   A.; Matalliotakis,Ioannis; Goulielmos,George   N.

doi:10.3892/mmr.2017.7398

The role of gene polymorphisms in endometriosis

Authors:
- Michail Matalliotakis
- Maria I. Zervou
- Charoula Matalliotaki
- Nilufer Rahmioglu
- George Koumantakis
- Ioannis Kalogiannidis
- Ioannis Prapas
- Krina Zondervan
- Demetrios A. Spandidos
- Ioannis Matalliotakis
- George N. Goulielmos
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Affiliations: Department of Obstetrics and Gynecology, Venizeleio General Hospital, Heraklion 714 09, Greece, Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion 710 03, Greece, Wellcome Trust Centre for Human Genetics University of Oxford, Oxford OX1 1JD, UK, Genesis Athens Clinic, Athens 152 32, Greece, 3rd Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, Thessaloniki 541 24, Greece, IAKENTRO, Infertility Treatment Center, Thessaloniki 542 50, Greece, Laboratory of Clinical Virology, Medical School, University of Crete, Heraklion 710 03, Crete, Greece
Published online on: August 29, 2017 https://doi.org/10.3892/mmr.2017.7398
Pages: 5881-5886
Copyright: © Matalliotakis et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Endometriosis is a benign gynecologic disorder, affecting up to 10% of women, characterized by the presence of functional endometrial tissue at ectopic positions generally within the peritoneum. It is a heritable condition influenced by multiple genetic and environmental factors, with an overall heritability estimated at approximately 50%. In this study, we investigated whether single nucleotide polymorphisms (SNPs) rs7521902, rs10859871 and rs11031006, mapping to WNT4, VEZT and FSHB genetic loci, respectively, are associated with risk for endometriosis in a Greek population. This study included 166 women with histologically confirmed endometriosis diagnosed through surgery and 150 normal controls. Genotyping of the rs7521902, rs10859871 and rs11031006 SNPs was performed with Taqman primer/probe sets. A significant association was detected with the AC genotype of rs7521902 (WNT4) in patients with stage III and IV disease only. Evidence for association with endometriosis was also found for the AC genotype of the rs10859871 of VEZT. Notably, a significant difference in the distribution of the AG genotype and the minor allele A of FSHB rs11031006 SNP was found between the endometriosis patients and controls. We found a genetic association between rs11031006 (FSHB) SNP and endometriosis. WNT4 and VEZT genes constitute the most consistently associated genes with endometriosis. In the present study, an association of rs7521902 (WNT4) and rs10859871 (VEZT) was confirmed in women with endometriosis at the genotypic but not the allelic level.

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