Results
| PMID | 18930211 |
| Gene Name | VEGFA |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | VEGF 936C/T |
| Population size | 366 |
| Population details | 366 (186 with endometriosis, 180 controls without the disease) |
| Sex | Female |
| Associated genes | VEGF |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2009 Oct;92(4):1214-20. doi: 10.1016/j.fertnstert.2008.08.079. Cosin, Raul| Gilabert-Estelles, Juan| Ramon, Luis A| Espana, Francisco| Gilabert, Juan| Romeu, Alberto| Estelles, Amparo Research Center, Hospital Universitario La Fe, Valencia, Spain. OBJECTIVE: To analyze three functional vascular endothelial growth factor (VEGF) polymorphisms (-460C/T, +405G/C, and 936C/T) in women with and without endometriosis and their correlation with VEGF expression in endometrial tissue and peritoneal fluid (PF). DESIGN: Case-control study. SETTING: University-based hospital. PATIENT(S): One hundred eighty-six women with endometriosis and 180 controls without the disease. INTERVENTION(S): Endometrial biopsies were performed by aspiration and PF samples were obtained at laparoscopy. MAIN OUTCOME MEASURE(S): VEGF polymorphisms (-460C/T, +405G/C, and 936C/T) were determined using a polymerase chain reaction (PCR)-restriction fragment length polymorphism assay. Quantitative real-time reverse transcriptase (RT)-PCR assay was used to quantify VEGF-A messenger RNA (mRNA) and VEGF-A antigen levels were quantified by ELISA. RESULT(S): Patients with endometriosis showed a higher VEGF 936T allele frequency than controls. However, the distribution of genotypes and allele frequencies in the other two VEGF (-460C/T, +405G/C) polymorphisms was similar in the endometriosis and control groups. Endometrium and PF from women with endometriosis showed an increase in VEGF levels, but no association was found between the VEGF polymorphisms studied and VEGF expression in endometrial tissue and PF. CONCLUSION(S): These findings suggest that the VEGF 936C/T polymorphism may be associated with the risk of endometriosis in a Caucasian population, but the increased VEGF levels observed in endometriosis do not appear to be associated with this polymorphism. Mesh Terms: Adolescent| Adult| Case-Control Studies| Endometriosis/*genetics/pathology| Endometrium/metabolism/pathology| Female| Gene Expression/genetics| Gene Frequency| Genetic Predisposition to Disease| Genotype| Humans| Middle Aged| Mutation, Missens |
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