Results
| PMID | 23635398 |
| Gene Name | KDR |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | VEGFR-2 (1719T/A, 1192C/T, +31C/T, IVS25-92A/G and IVS6+?54C/T) |
| Population size | 1151 |
| Population details | 1151 (571 patients with endometriosis, 580 women in the control group) |
| Sex | Female |
| Associated genes | VEGFR-2 |
| Other associated phenotypes |
Endometriosis |
|
Gynecol Obstet Invest. 2013;76(1):32-7. doi: 10.1159/000350665. Epub 2013 Apr 26. Kang, Shan| Shi, Yuan-yuan| Li, Yan| Wang, Na| Lu, Yu-chao| Zhou, Rong-miao| Zhao, Xi-wa Department of Obstetrics and Gynecology, Hebei Medical University, Fourth Hospital, Shijiazhuang, China. ksjq62cn@sina.com AIM: To investigate the association of tag single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor receptor 2 (VEGFR-2) gene with susceptibility to endometriosis. METHODS: This study comprised 571 patients with endometriosis and 580 women in the control group. Five tag SNPs in the VEGFR-2 gene were selected using a Haploview program, and those SNPs were genotyped by a method of polymerase chain reaction and ligase detection reaction. RESULTS: Statistical results show that there was a significant difference in the genotype and allele distribution of the 1192C/T polymorphism between the disease group and the control group (p = 0.041 and 0.017). The women carrying the T allele (C/T+T/T genotype) had a lower risk of developing endometriosis compared with the women with the C/C genotype (OR 0.75, 95% CI 0.57-0.99). There was no significant difference in the allele and genotype distribution of four other tag SNPs (1719T/A, +31C/T, IVS25-92A/G and IVS6+54C/T) between the disease group and the control group (all p > 0.05). CONCLUSIONS: Our results suggested that the 1192C/T polymorphisms on the VEGFR-2 gene might affect the risk of developing endometriosis in Northern Chinese women of Han ethnicity. Mesh Terms: Asian Continental Ancestry Group/*genetics| Case-Control Studies| Chi-Square Distribution| China| DNA/chemistry/genetics| Endometriosis/ethnology/*genetics| Female| Genetic Predisposition to Disease| Genetic Variation| Haplotypes| Humans| Polym |
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