血管内皮生长因子基因多态性与子宫内膜异位症的相关性

目的：探讨温州地区人群中血管内皮生长因子（VEGF）基因多态性与子宫内膜异位症（简称内异 症）遗传易感性的关系。方法：应用聚合酶链式反应-限制性片段长度多态性分析技术（PCR-RFLP）对2014 年3月至2015年3月在温州医科大学附属第一医院妇科就诊的150例卵巢型内异症患者（内异症组）和150 例健康对照者（对照组）进行VEGF基因rs3025040C/T、rs10434G/A多态性位点进行分析，分析等位基因 及基因型的分布及其与内异症发病的风险关系。结果：内异症组患者VEGF-rs3025040C/T位点C、T等位 基因频率分别为76.67%和23.33%，对照组为58.00%、42.00%，差异有统计学意义（χ2=23.762， P ＜0.001， OR =1.800，95% CI =1.410～2.298），提示在VEGF-rs3025040C/T位点上携带有C等位基因的妇女更易得内异症。 内异症组患者VEGF-rs10434G/A位点G、A等位基因频率分别为60.00%和40.00%，对照组为81.67%、18.33%， 差异有统计学意义（χ2=34.084， P ＜0.001， OR =1.344，95% CI =1.207～1.497），提示在VEGF-rs10434G/A位 点上携带有A等位基因的妇女更易得内异症。结论：VEGF-rs3025040C/T、rs10434G/A位点多态性与内异 症发生的易感性有关。

The relationship between vascular endothelial growth factor gene polymorphism and endometriosis

Objective: To investigate whether polymorphisms of vascular endothelial growth factor (VEGF) in promoter region (rs3025040 C/T, rs10434 G/A) are associated with hereditary susceptibility of endometriosis. Methods: A total of 150 patients with endometriosis pathologically diagnosed who were admitted to the First Affiliated Hospital of Wenzhou Medical University from March 2014 to March 2015 were selected as case group and another 150 healthy volunteers were collected as control group. 5 mL blood samples were obtained from both groups in this assay and genomic DNA was extracted from peripheral blood leukocyte using TIANamp Blood DNA Kit. Special DNA PCR primers were designed using Primer Premier 5 software. The genotypes of all sites were detected by polymorphism chain reaction and restriction fragment length polymorphism analysis (PCRRFLP). Results: The C and T allele frequencies in VEGF-rs3025040 C/T site in case group and control group were 76.67%, 23.33% and 58.00%, 42.00%, respectively. There was significant difference in allele distributions of the VEGF-rs3025040 C/T site between two groups (χ2=23.762, P<0.001, OR=1.800, 95%CI=1.410-2.298). Compared with the T allele, the C allele significantly increased the risk of developing endometriosis. The G and A allele frequency in VEGF-rs10434 G/A site in case group and control group was 60.00%, 40.00% and 81.67%, 18.33% respectively. There was significant difference in allele distributions of the VEGF-rs10434 G/A site between two groups (χ2=34.084, P<0.001, OR=1.344, 95%CI=1.207-1.497). Compared with the G allele, the A allele significantly increased the risk of developing endometriosis. Conclusion: The results suggest that VEGFrs3025040 C/T, rs10434 G/A polymorphisms are associated with endometriosis.