VEGF基因多态性与多囊卵巢综合征遗传易感性的相关性研究

目的 探索血管内皮生长因子基因（vascular endothelial growth factor gene, vegf）rs3025039C/T的单核苷酸多态性（single nucleotide polymorphism, SNP）和rs3025020C/T SNP与多囊卵巢综合征（polycystic ovary syndrome, PCOS）发病风险的相关性。方法 运用聚合酶链反应 - 连接酶检测反应（polymerase chain reaction - ligase detection reaction, PCR - LDR）的方法分析了152例PCOS患者组和160例健康对照组vegf基因rs3025039C/T和rs3025020C/T 的单核苷酸多态性和PCOS发病风险的关系。结果 与CC基因型相比，携带CT基因型可能增加PCOS的发病风险，OR值为1.75（95%CI:1.04～2.95）。用2LD软件对这2个多态性位点进行了联合分析，结果显示，2个位点之间存在连锁不平衡现象（D＇ = 0.81）。用EH软件进行单体型分析，结果显示，CC是人群中最常见的单体型，CT单体型增加了PCOS的发病风险（OR = 1.62，95%CI:1.01～2.60）。结论 vegf基因rs3025039C/T SNP增加了对PCOS的遗传易感性，携带CT基因型增加了PCOS的发病风险。

Association between the vascular endothelial growth factor gene polymorphism and the risk of polycystic ovary syndrome

Objective To explore the association of vascular endothelial growth factor(VEGF) gene rs3025039C/T single nucleotide polymorphism(SNP) and rs3025020C/T SNP with susceptibility to polycystic ovary syndrome(PCOS). Methods The genotypes of VEGF gene rs3025039C/T SNP and rs3025020C/T SNP were performed by polymerase chain reaction-ligase detection reaction(PCR-LDR) method in 152 PCOS patients and 160 healthy controls. Results The women carrying CT genotype had a higher risk of PCOS compared with the women with the CC genotype. The OR was 1.75(95%CI=1.04-2.95).VEGF gene rs3025039C/T SNP and rs3025020C/T SNP were combined for analysis using 2 LD software. Results showed that linkage disequilibrium exists between these two SNPs(D’=0.81). The haplotype of these two SNPs was analyzed using EH software. The result revealed that the CC was the most frequent haplotype. Compared with the most frequent CC haplotype,the CT haplotype significantly increased the risk of PCOS(OR=1.62, 95%CI=1.01-2.60). Conclusion The finding suggests that the VEGF gene rs3025039C/T SNP is significantly associated with the risk of PCOS. The women carrying the CT genotype have a higher risk of PCOS compared with those with CC genotype.