Results
| PMID | 15979997 |
| Gene Name | VEGFA |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | VEGF (+405 C/G polymorphism, -460 C/T polymorphism) |
| Population size | 504 |
| Population details | 504 (215 women with advanced stage endometriosis, 219 control women without endometriosis, 70 fertile women) |
| Sex | Female |
| Associated genes | VEGF |
| Other associated phenotypes |
Endometriosis |
|
Hum Reprod. 2005 Oct;20(10):2904-8. Epub 2005 Jun 24. Kim, Sung Hoon| Choi, Young Min| Choung, Seon Ha| Jun, Jong Kwan| Kim, Jung Gu| Moon, Shin Yong Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Korea. BACKGROUND: Vascular endothelial growth factor (VEGF) is known to play a pivotal role in the development of endometriosis. This study was performed to investigate whether the VEGF gene 5'-untranslated region polymorphism is associated with susceptibility to advanced stage endometriosis. METHODS: This study comprised 215 women with advanced stage endometriosis, 219 control women without endometriosis, and 70 fertile women. Following extraction of genomic DNA, genotyping of the -460 C/T and +405 C/G polymorphisms of the VEGF gene were performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. RESULTS: The distribution of genotypes and allele frequencies of the -460 C/T polymorphism in the endometriosis group did not differ from those in the control group and the fertile women group. However, genotype distribution of the +405 C/G polymorphism was significantly different between patients with and without endometriosis (P = 0.01) and between patients with endometriosis and the fertile women (P = 0.02). Patients with endometriosis showed a higher incidence of the +405 CC genotype compared with the controls and the fertile women (P = 0.007 and 0.016 respectively). CONCLUSIONS: These findings suggest that the VEGF +405 C/G polymorphism may be associated with the risk of advanced stage endometriosis in the Korean population. Mesh Terms: Alleles| Case-Control Studies| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| Haplotypes| Humans| Korea| Odds Ratio| *Polymorphism, Genetic| Polymorphism, Restriction Fragment Length| Sequence An |
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