Genetic association study in a three-generation family with seven members with endometriosis

Matalliotakis,Michail; Zervou,Maria I.; Matalliotaki,Charoula; Arici,Aydin; Spandidos,Demetrios A.; Matalliotakis,Ioannis; Goulielmos,George N.

doi:10.3892/mmr.2017.7337

November-2017 Volume 16 Issue 5

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November-2017 Volume 16 Issue 5

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Article Open Access

Genetic association study in a three-generation family with seven members with endometriosis

Authors:
- Michail Matalliotakis
- Maria I. Zervou
- Charoula Matalliotaki
- Aydin Arici
- Demetrios A. Spandidos
- Ioannis Matalliotakis
- George N. Goulielmos
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Affiliations: Department of Obstetrics and Gynecology, Venizeleio and Pananio General Hospital of Heraklion, Heraklion 71409, Greece, Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine University of Crete, Heraklion 71003, Greece, Department of Obstetrics and Gynecology and Reproductive Sciences Yale University School of Medicine, New Haven, CT 06510, USA, Laboratory of Clinical Virology, Medical School, University of Crete, Heraklion 71003, Greece

Copyright: © Matalliotakis et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Pages: 6077-6080
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Published online on: August 23, 2017

https://doi.org/10.3892/mmr.2017.7337
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Abstract

The aim of this study was to investigate whether five single nucleotide polymorphisms (SNPs), associated with endometriosis, may confer new insight towards a genotype‑phenotype association with endometriosis. We studied a three-generation family with seven women who had endometriosis. Blood specimens were obtained from all the affected female family members. The entire family was genotyped for five SNPs mapped to WNT4, VEZT, FSHB and IL-16 genetic loci. We further evaluated the members of the family with endometriosis and described all obstetric and gynecological complications caused by the disease in these seven women. The five SNPs analyzed did not reveal any genotype-phenotype correlation with the disease. The members of the family with endometriosis showed a variety of clinical manifestations and complications. None of the five genetic markers examined correlated genotype with phenotype in the case of the Greek three-generation family examined. Therefore, we conclude that more gene polymorphisms must be investigated in the members of this family to gain insight regarding a genotype‑phenotype correlation in endometriosis and the potential development of a personalized care for the patients based on these data.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Genetic association study in a three-generation family with seven members with endometriosis

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