Vascular Endothelial Growth Factor-A (VEGF-A) Single Nucleotide Polymorphisms and Endometriosis: Still a Controversial Issue

Guido Bocci, Alessandro Fasciami, Paola Orlandi, Antonello Di Paolo, Mario Del Tacca, Romano Danesi
In: Journal of Endometriosis · 2009 · vol. 1(2) , pp. 94–101 · doi:10.1177/228402650900100204 · W4254354575
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This review critically analyzes conflicting studies on VEGF-A single nucleotide polymorphisms and their association with endometriosis risk and pathogenesis, noting potential reasons for discrepancies and the importance of future pharmacogenetic research.

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Abstract

Endometriosis is a chronic, multifactorial, polygenic gynecological disease. Endometrium has a high angiogenic potential and endometriotic lesions involve large areas with a rich blood supply. Angiogenesis is controlled by numerous inducers, including the vascular endothelial growth factor (VEGF) family. Endometrium undergoes cyclical growth and regression during the menstrual cycle, which depends on ovarian steroid levels and is a rich source of angiogenic growth factors, including VEGF-A. The VEGF-A gene is located on chromosome 6p21.3 and it is highly polymorphic with more than 20 different variants. This article critically reviews the published data concerning the relationships between some of the VEGF-A single nucleotide polymorphisms and the risk, pathogenesis and stage of endometriosis. Contrasting results have been published in the literature - probably due to the different ethnic background and the number of patients enrolled in clinical trials. However, the increasing interest in the use of antiangiogenic drugs (eg anti-VEGF-A drugs) in the therapy of endometriosis may suggest carrying out further genetic and pharmacogenetic studies of this disease because the stratification of patients at risk of endometriosis can lead to early diagnosis and optimal treatment choice.

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endometriosis

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