Results
| PMID | 19350508 |
| Gene Name | VEGFA |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | VEGF -1154G/A, -460C/T |
| Population size | 1077 |
| Population details | 1077 (344 endometriosis patients, 174 adenomyosis patients, 360 frequency-matched control women of endometriosis, 199 frequency-matched control women of adenomyosis) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | VEGF |
| Other associated phenotypes |
Endometriosis, adenomyosis |
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):165-9. doi: Liu, Qing| Li, Yan| Zhao, Jian| Zhou, Rong-miao| Wang, Na| Sun, Dong-lan| Duan, Ya-nan| Kang, Shan Department of Gynecology and Obstetrics, Hebei Medical University, Hebei, 050011 People's Republic of China. OBJECTIVE: To investigate the association of single nucleotide polymorphisms (SNPs) in VEGF gene with the risk of endometriosis and adenomyosis. METHODS: Genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 344 endometriosis patients, 174 adenomyosis patients, 360 frequency-matched control women of endometriosis and 199 frequency-matched control women of adenomyosis. RESULTS: No significant difference was found in allele frequencies and genotype distributions of the -460C/T polymorphism between patients (endometriosis and adenomyosis) and control women (all P value > 0.05). However, there were significant differences in genotype and allele distributions of the VEGF -1154G/A polymorphism between patients (endometriosis and adenomyosis) and control women (all P value < 0.05). The genotype frequencies of the VEGF -1154 AA, GA, and GG in endometriosis patients and control women were 1.7%, 28.8%, 69.5% and 5.8%, 32.8%, 61.4%, respectively; and the A and G allele frequencies in the two groups were 16.1%, 83.9% and 22.2%, 77.8%, respectively. The genotype frequencies of the VEGF -1154 AA, GA, and GG in adenomyosis patients and control women were 2.9%, 23.6%, 73.6% and 7.0%, 34.2%, 58.8%, respectively; and the A and G allele frequencies in the two groups were 14.7%, 85.3% and 24.1%, 75.9% respectively. Compared with GA+ AA genotype, GG genotypes could significantly increase the risk of endometriosis (OR:1.43,95%CI:1.05-1.96) and adenomyosis (OR:1.95,95%CI:1.26-3.03). CONCLUSION: The VEGF -1154G/A polymorphism was associated with susceptibility to endometriosis and adenomyosis, and the GG genotype could significantly increase the risk of developing endometriosis and adenomyosis. However, the VEGF -460C/T polymorphism was not associated with susceptibility to endometriosis and adenomyosis in the population studied. Mesh Terms: *5' Untranslated Regions| Adult| Biophysical Phenomena| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease/*genetics| Genotype| Humans| Polymorphism, Genetic| *Polymorphism, Single Nucleotide| *Promoter Regions, |
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