Results
| PMID | 15283056 |
| Gene Name | VEGFA |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | VEGF-460 |
| Population size | 253 |
| Population details | 253 (122 patients with endometriosis, 131 patients without endometriosis) |
| Sex | Female |
| Associated genes | VEGF |
| Other associated phenotypes |
Endometriosis |
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J Reprod Med. 2004 Jun;49(6):468-72. Hsieh, Yao-Yuan| Chang, Chi-Chen| Tsai, Fuu-Jen| Yeh, Lian-Shun| Lin, Cheng-Chieh| Peng, Ching-Tien Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan. OBJECTIVE: To investigate whether vascular endothelial growth factor (VEGF) gene 5'-UTR-460 polymorphism could be used as a marker of susceptibility to endometriosis. STUDY DESIGN: Women were divided into 2 groups, endometriosis (n = 122) and nonendometriosis (n = 131). Polymorphisms for VEGF were detected by polymerase chain reaction and BstUI (New England Biolabs, Beverly, Massachusetts) restriction enzyme analysis. Genotypes and allelic frequencies between the groups were compared. RESULTS: Proportions of different VEGF polymorphisms in the groups were significantly different. Proportions of cuttable (C) homozygote/heterozygote/ uncuttable (T) homozygotefor VEGF in the groups were 0/44.3/55.7% and 0/63.4/36.6%, respectively. A higher percentage of T/F homozygote and T allele was present in the endometriosis population. The proportions of C/T alleles in the groups were 22.1/77.9% and 31.7/68.3%, respectively. CONCLUSION: T/T homozygotes and the T allele of the VEGF-460 gene are associated with a higher risk of endometriosis. Heterozygotes and C allele are related to the lower risk of endometriosis formation. VEGF polymorphism likely contributes to the pathogenesis of endometriosis and may become a useful markerfor predicting endometriosis susceptibility. Mesh Terms: *5' Untranslated Regions| Adult| Case-Control Studies| Endometriosis/*genetics| Female| *Genetic Predisposition to Disease| Genotype| Humans| Polymerase Chain Reaction| *Polymorphism, Genetic| Premenopause| Vascular Endothelial Growth Factor A/ |
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