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血管内皮生长因子受体-2(VEGFR-2)基因遗传变异与中国北方女性子宫内膜异位症发病风险的关联。

Association between genetic variants of the VEGFR-2 gene and the risk of developing endometriosis in Northern Chinese Women.

机构信息

Department of Obstetrics and Gynecology, Hebei Medical University, Fourth Hospital, Shijiazhuang, China.

出版信息

Gynecol Obstet Invest. 2013;76(1):32-7. doi: 10.1159/000350665. Epub 2013 Apr 26.

Abstract

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.

摘要

目的

探讨血管内皮生长因子受体 2(VEGFR-2)基因标签单核苷酸多态性(SNP)与子宫内膜异位症易感性的关系。

方法

本研究纳入 571 例子宫内膜异位症患者和 580 名对照组女性。采用 Haploview 程序选择 VEGFR-2 基因中的 5 个标签 SNP,并采用聚合酶链反应和连接酶检测反应方法对这些 SNP 进行基因分型。

结果

统计结果显示,疾病组与对照组之间 VEGFR-2 基因 1192C/T 多态性的基因型和等位基因分布存在显著差异(p = 0.041 和 0.017)。与 C/C 基因型女性相比,携带 T 等位基因(C/T+T/T 基因型)的女性发生子宫内膜异位症的风险较低(OR 0.75,95%CI 0.57-0.99)。另外 4 个标签 SNP(1719T/A、+31C/T、IVS25-92A/G 和 IVS6+54C/T)的等位基因和基因型分布在疾病组和对照组之间无显著差异(均 p > 0.05)。

结论

我们的研究结果表明,VEGFR-2 基因上的 1192C/T 多态性可能影响中国北方汉族女性发生子宫内膜异位症的风险。

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