Role of vascular endothelial growth factor polymorphisms (-2578C > A, -460 T > C, -1154G > A, +405G > C and +936C > T) in endometriosis: a case–control study with Brazilians

Jamila Alessandra Perini, Jessica Vilarinho Cardoso, Jéssica Vilarinho Cardoso, Plínio Tostes Berardo, Rosane Vianna-Jorge, Rosane Vianna‐Jorge, Luiz Eurico Nasciutti, Marta Bellodi‐Privato, Marta Bellodi-Privato, Daniel Escorsim Machado, Maurício Simões Abrão, Mauricio Simões Abrão
BMC women's health · 2014 · vol. 14(1) , pp. 117 · doi:10.1186/1472-6874-14-117 · PMID:25255852 · PMC4261242 · W1969437304
article OA: gold CC0 ⤵ 16 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study found that the VEGF -1154G > A polymorphism is associated with an increased risk of endometriosis, while the CCGG haplotype may be protective.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This case-control study enrolled 182 Brazilian women with histologically confirmed endometriosis and 112 surgical controls without visible endometriosis to test whether five VEGF promoter-region/UTR polymorphisms (-2578C>A, -460T>C, -1154G>A, +405G>C, +936C>T), including their combined haplotypes, were associated with endometriosis risk. VEGF genotyping used TaqMan real-time PCR, and unconditional logistic regression estimated odds ratios, with haplotypes inferred using Haploview. The -1154A variant was significantly associated with endometriosis overall and with deep infiltrating endometriosis and stages III–IV, while the other four SNPs showed no significant case-control allele/genotype differences; a protective CCGG haplotype was also reported. The paper notes differences in BMI between groups and excluded women with adenomyosis or cancer, which may limit generalizability. This paper is centrally about endometriosis — it assesses VEGF polymorphisms and inferred haplotypes as genetic risk factors for endometriosis susceptibility.

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Abstract

BACKGROUND: Endometriosis is regarded as a complex and heterogeneous disease in which genetic and environmental factors contribute to the phenotype. The Vascular Endothelial Growth Factor (VEGF) plays important roles in the pathogenesis of endometriosis. The present study was aimed at investigating the contribution of VEGF polymorphisms as risk factors for the development of endometriosis. This is the first study to evaluate the combined influence of the five most common VEGF polymorphisms. METHODS: This study was conducted at two hospitals from the Brazilian public health system, and comprised 294 women submitted to laparoscopic or laparotomy surgery: 182 patients had a histologically confirmed diagnosis of endometriosis (cases), whereas 112 had no evidence of the disease (controls). The VEGF polymorphisms were determined by TaqMan real-time polymerase chain reaction. The odds ratio (OR) with their 95% confidence intervals (CI) were calculated using an unconditional logistic regression model. RESULTS: Endometriosis patients and controls did not differ regarding age distribution, whereas the body mass index was significantly lower in endometriosis patients, when compared with controls (23.1 ± 3.9 versus 27.3 ± 5.9, P < 0.001). The evaluation of gynecological symptoms, including dysmenorrhea, non-cyclic chronic pelvic pain, dyspareunia and infertility, indicates significantly higher prevalences among endometriosis cases. The variant allele -1154A was significantly associated with endometriosis, either considering all cases (OR: 1.90, 95% CI: 1.23-2.97), deep infiltrating endometriosis (DIE) (OR: 1.83, 95% CI: 1.16-2.90) or moderate and severe endometriosis (stages III-IV) (OR: 1.97, 95% CI: 1.21-3.19). No significant differences were found in allele or genotype distributions of the -2578C > A, -460 T > C, +405G > C and +936C > T polymorphisms between endometriosis cases and controls. A total of six haplotypes were inferred derived from four polymorphisms (-2578C > A, -460 T > C, -1154G > A and +405G > C). There was a protective association between CCGG haplotype and endometriosis, either considering all cases (OR: 0.36, 95% CI: 0.15-0.86), DIE (OR: 0.37 95% CI: 0.15 - 0.90) or stages III-IV (OR: 0.35 95% CI: 0.13 - 0.95). CONCLUSIONS: The present results indicate a positive association between VEGF -1154G > A and the risk of developing endometriosis, whereas the CCGG haplotype may be protective against the development of disease.

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Condition tags

endometriosisdie_deep_infiltratingchronic_pelvic_paindysmenorrheadyspareuniainfertility

MeSH descriptors

Endometriosis Vascular Endothelial Growth Factor A Adult Brazil Case-Control Studies Endometriosis Female Gene Frequency Genetic Predisposition to Disease Genotype Haplotypes Humans Polymorphism, Single Nucleotide Protective Factors Severity of Illness Index Vascular Endothelial Growth Factor A

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