Polimorfismos genéticos e endometriose: A contribuição dos genes que regulam a função vascular e o remodelamento de tecidos

Alessandra Bernadete Trovó de Marqui
Revista da Associacao Medica Brasileira (1992) · 2012 · vol. 58(5) , pp. 620–632 · doi:10.1590/s0104-42302012000500022 · PMID:23090236 · W2122297460
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This review details genetic polymorphisms in vascular function and tissue remodeling genes, finding associations with endometriosis risk for some VEGF, PAI, and MMP haplotypes, but not others.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 · read from full text ⓘ

The paper reviews or synthesizes evidence on genetic polymorphisms associated with endometriosis, focusing specifically on genes that regulate vascular function and tissue remodeling. It discusses how variants in relevant biological pathways are linked to processes such as abnormal vascularization and changes in tissue structure observed in endometriosis, drawing connections across prior genetic and mechanistic findings. A key limitation is that, based on the provided text, the work is not an original experimental study but rather a synthesis, and the strength of conclusions depends on the heterogeneity and scope of included studies. This paper is centrally about endometriosis — it focuses on how genetic polymorphisms in vascular function and tissue remodeling pathways contribute to the condition.

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Abstract

A endometriose é uma doença ginecológica benigna caracterizada pela presença e crescimento de células endometriais fora do útero. Fatores genéticos, endócrinos, imunológicos e ambientais têm sido sugeridos em sua patogênese. Um grande número de estudos tem relacionado polimorfismos genéticos como um fator que contribui para o desenvolvimento da endometriose. Nesta revisão, apresentamos uma descrição detalhada da contribuição de polimorfismos genéticos nos genes que regulam a função vascular e o remodelamento do tecido em endometriose (AHSG, EGFR, EGF, VEGF, endostatina, PAI-1, ACE e MMPs). Alguns polimorfismos dos genes VEGF (-460 C/T, +405 G/C, +936 C/T), PAI, MMP-1, 2 e 3 foram amplamente estudados, enquanto outros dos genes AHSG, EGF, endostatina e VEGF (-1154 G/A, -2578 A/C), não. Nesse último caso, estudos adicionais tornam-se necessários para confirmar os achados encontrados pelos poucos trabalhos que analisaram esses polimorfismos de único nucleotídeo (SNP). Além disso, os estudos que encontraram associação positiva ou negativa do SNP com endometriose enfatizam a importância de estudos com grande número de casos-controles para confirmar os achados por eles publicados. A análise por haplótipo foi realizada apenas para os genes VEGF (-460, +405, -1154 e -2578), ACE (-240/2350) e MMP-1, 2, 3 e 9, e, na maioria deles, não houve associação com endometriose. Dos oito trabalhos que analisaram haplótipos do gene VEGF, cinco deles não os associaram à endometriose. Os haplótipos dos genes ACE e MMP-2 não foram associados à endometriose, enquanto aqueles dos genes MMP-1, 3 e 9 foram relacionados a risco elevado da doença. Endometriosis is a benign gynecological disease characterized by the presence and growth of endometrial cells outside the uterus. Genetic, endocrine, immunological, and environmental factors have been suggested in its pathogenesis. A great number of studies have related genetic polymorphisms as a factor that contributes to the development of endometriosis. This review presents a detailed description of the contribution of genetic polymorphisms in genes that regulate vascular function and tissue remodeling in endometriosis (alpha 2-HS glycoprotein [AHSG], epidermal growth factor receptor [EGFR], vascular endothelial growth factor [VEGF], endostatin, plasminogen activator inhibitor 1 [PAI-1], angiotensin I-converting enzyme [ACE], and matrix metalloproteinases [MMPs]). Some polymorphisms of the VEGF (-460 C/T, +405 G/C, +936 C/T), PAI, MMP-1, 2, and 3 genes were widely studied, while polymorphisms of the AHSG, EGF, endostatin, and VEGF (-1154 G/A, -2578 A/C) genes were not. In this latter case, additional studies are required to confirm the findings of the few studies that have analyzed these single nucleotide polymorphisms (SNPs). Additionally, studies that found a positive or negative association of SNP with endometriosis emphasize the relevance of studies with a large number of control cases to confirm their findings. The haplotype analysis was performed only for the VEGF (-460, +405, -1154 and -2578), ACE (-240/2350) and MMP-1, 2, 3, and 9 genes, and in most of them, there was no association with endometriosis. Of the eight works that analyzed haplotypes of the VEGF gene, five did not associate them with endometriosis. Haplotypes of ACE and MMP-2 genes were not associated with endometriosis, while those of MMP-1, 3, and 9 genes were related to a high risk for the disease.
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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Polymorphism, Genetic Regeneration Vascular Endothelial Growth Factor A Endometriosis Female Humans Neovascularization, Physiologic Neovascularization, Physiologic Polymorphism, Genetic Regeneration Vascular Endothelial Growth Factor A

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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