Results
| PMID | 17963063 |
| Gene Name | VEGFA |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | VEGF (-460 C/T, +405 G/C, +936 C/T polymorphisms ) |
| Population size | 328 |
| Population details | 328 (147 endometriosis cases diagnosed by laparotomy or laparoscopy at a university hospital, and 181 controls) |
| Sex | Female |
| Associated genes | VEGF |
| Other associated phenotypes |
Endometriosis |
|
Acta Obstet Gynecol Scand. 2007;86(11):1352-8. Ikuhashi, Yoshiyuki| Yoshida, Shigeki| Kennedy, Stephen| Zondervan, Krina| Takemura, Naoya| Deguchi, Masashi| Ohara, Noriyuki| Maruo, Takeshi Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan. BACKGROUND: Vascular endothelial growth factor (VEGF) concentration in endometriosis patients is higher than controls, in serum and ascites, suggesting that VEGF may play an important role in the pathogenesis of endometriosis. In this study, we investigated whether polymorphisms in the VEGF gene are associated with endometriosis in a Japanese population. METHODS: Genotyping of VEGF -460 C/T, +405 G/C and +936 C/T polymorphisms were performed in 147 endometriosis cases diagnosed by laparotomy or laparoscopy at a university hospital, and 181 controls, by polymerase chain reaction-restriction fragment length polymorphism analysis. We compared the genotype distribution and allele frequency of these 3 polymorphisms between endometriosis patients and controls. RESULTS: No significant differences in the frequency and genotype distribution of VEGF -460 C/T, +405 G/C and +936 C/T polymorphisms were found between the endometriosis patients (all disease stages) and controls. However, a positive association was found between stage III-IV disease and the VEGF +936 T allele (p=0.018). CONCLUSIONS: The VEGF +936 T allele is associated with an increased risk of stage III-IV endometriosis in a Japanese population. Mesh Terms: Adult| Asian Continental Ancestry Group/*genetics| Case-Control Studies| Endometriosis/*ethnology/*genetics/pathology| Female| Genetic Predisposition to Disease/genetics| Humans| Infant, Newborn| Linkage Disequilibrium/genetics| Polymorphism, Gen |
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