Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 22128802
Gene Name VEGFA
Condition Endometriosis
Association Associated
Mutation -460T>C, +405G>C
Population size 1080
Population details 1080 (480 patients with endometriosis, 600 normal controls)
Sex Female
Other associated phenotypes Endometriosis
The vascular endothelial growth factor (VEGF) polymorphisms and the risk of endometriosis in northern Iran.

Gynecol Endocrinol. 2012 Jun;28(6):447-50. doi: 10.3109/09513590.2011.632791.

Emamifar, Banafsheh| Salehi, Zivar| Mehrafza, Marzieh| Mashayekhi, Farhad

Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran.

Vascular endothelial growth factor (VEGF) is known to be a key molecule in the pathogenesis of endometriosis. In this study, we evaluated whether two polymorphisms -460T>C and +405G>C in VEGF are related with the susceptibility to endometriosis in northern Iran. Genomic DNA derived from patients with endometriosis and healthy women were analysed by polymerase chain reaction-restriction fragment length polymorphism. The total number of 1080 subjects (480 patients with endometriosis and 600 normal controls) was enrolled into the study. We used the Chi-square (chi(2)) test to evaluate each allele and genotype frequency of -460T>C and +405G>C polymorphisms among the cases and controls. The associations between the polymorphisms and the risk of endometriosis were estimated by odds ratio and their 95% confidence intervals. There was no significant differences in the VEGF -460T>C genotypes and allele frequencies between control women and endometriosis patients (P = 0.63). In contrast, an increased frequency of the +405CC genotype was observed in the patients with endometriosis as compared with the controls. The +405C allele was associated with the presence of endometriosis. It is concluded that the +405G>C polymorphism in VEGF may be associated with higher risk of endometriosis in northern Iran.

Mesh Terms: Adult| Case-Control Studies| Endometriosis/epidemiology/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| Humans| Iran/epidemiology| Peritoneal Diseases/epidemiology/*genetics| *Polymorphism, Genetic/physiology| Po