Results
PMID | 19531502 |
Gene Name | VEGFA |
Condition | Endometriosis |
Association |
Associated |
Mutation | VEGF (-460C/T, -1154G/A, -2578C/A and +936C/T) |
Population size | 704 |
Population details | 704 (344 women with endometriosis, 360 healthy women without endometriosis) |
Sex | Female |
Associated genes | VEGF |
Other associated phenotypes |
Endometriosis |
Hum Reprod. 2009 Oct;24(10):2660-6. doi: 10.1093/humrep/dep208. Epub 2009 Jun 16. Liu, Qing| Li, Yan| Zhao, Jian| Sun, Dong-Lan| Duan, Ya-Nan| Wang, Na| Zhou, Rong-Miao| Kang, Shan Department of Obstetrics and Gynaecology, Fourth Affiliated Hospital, Hebei Medical University, Jiankanglu 12, Shijiazhuang, China. BACKGROUND: Vascular endothelial growth factor (VEGF) plays an important role in the development of endometriosis. The aim of this study was to investigate the association of polymorphisms in the VEGF gene with the susceptibility to endometriosis. METHODS: This study comprised 344 North Chinese women with endometriosis and 360 healthy women without endometriosis recruited as control. Genotyping of the VEGF gene polymorphisms at -460C/T, -1154G/A, -2578C/A and +936C/T were performed by PCR and restriction fragment length polymorphism analysis. RESULTS: No significant difference was found in allele and genotype distributions of the -460C/T, +936C/T polymorphisms between patients and controls. However, the frequencies of -1154G/A, -2578C/A genotype and allele were significantly different between the two groups (all P-value <0.013). The -2578A/A, -1154A/A genotypes were found less frequently in patients with endometriosis compared with controls. The haplotype distributions derived from three polymorphisms (-2578C/A, -1154G/A, -460C/T) differed between the two groups (P = 0.000). CONCLUSIONS: The VEGF-460/-1154/-2578 TGC, CAA, TAA and TAC haplotypes were associated with endometriosis. The -1154A and -2578A alleles may be protective against the development of endometriosis in North Chinese women. Mesh Terms: Adult| Case-Control Studies| China| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Haplotypes| Humans| *Polymorphism, Genetic| Vascular Endothelial Growth Factor A/*genetics|DA 2009/12/16 06:00 |