Results
| PMID | 20685027 |
| Gene Name | VEGFA |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | VEGF (-2578 A/C, -1154 G/A, -634 G/C and 936 C/T), ACE (-240 A/T and 2350 A/G) |
| Population size | 349 |
| Population details | 349 (150 women with endometriosis, 199 control subjects) |
| Sex | Female |
| Associated genes | VEGF |
| Other associated phenotypes |
Endometriosis |
|
Eur J Obstet Gynecol Reprod Biol. 2010 Nov;153(1):85-9. doi: Lamp, Merit| Saare, Merli| Laisk, Triin| Karro, Helle| Kadastik, Ulle| Metspalu, Andres| Peters, Maire| Salumets, Andres Department of Obstetrics and Gynecology, University of Tartu, Tartu, Estonia. OBJECTIVE: To determine plausible associations between endometriosis and vascular endothelial growth factor gene (VEGF -2578 A/C, -1154 G/A, -634 G/C and 936 C/T), also angiotensin I-converting enzyme gene (ACE -240 A/T and 2350 A/G) single nucleotide polymorphisms (SNPs), as well as their respective haplotypes. STUDY DESIGN: PCR-based restriction fragment length polymorphism analysis was used to detect SNPs in VEGF and ACE genes in 150 Estonian women with endometriosis and 199 control subjects. RESULTS: The CC genotype of the VEGF -2578 A/C SNP was correlated with a decreased risk of endometriosis (OR=0.40, 95% CI 0.20-0.78). Other VEGF and ACE SNPs and haplotypes were not associated with endometriosis. CONCLUSION: This case-control study demonstrated that the VEGF -2578 A/C SNP may influence susceptibility to endometriosis in the Estonian population, while associations between endometriosis and other VEGF and ACE SNPs, as well as the respective haplotypes are unlikely. Mesh Terms: Adolescent| Adult| Case-Control Studies| Endometriosis/*genetics| Estonia| Female| Genotype| Haplotypes| Humans| Middle Aged| Peptidyl-Dipeptidase A/*genetics| *Polymorphism, Single Nucleotide| Vascular Endothelial Growth Factor A/*genetics|DA |
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