Bhanoori Manjula, Arvind Babu K, Pavankumar Reddy N G, Lakshmi Rao K, Zondervan Krina, Deenadayal Mamata, Kennedy Stephen, Shivaji S
Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad 500 007, India.
Hum Reprod. 2005 Jul;20(7):1844-9. doi: 10.1093/humrep/deh852. Epub 2005 Mar 3.
Vascular endothelial growth factor (VEGF), a major mediator of angiogenesis and vascular permeability, is known to play a key role in the pathophysiology of endometriosis.
The single nucleotide polymorphisms, -460C>T and +405G>C, in the 5'-untranslated region of the VEGF gene were tested for association in a case-control study of 215 affected women and 210 women with no evidence of disease. All the women were of South Indian origin and ascertained from the same infertility clinic. The genotype and allele frequencies of the -460C>T polymorphism did not differ significantly between cases and controls. In contrast, the genotype (P = 0.002) and allele (P = 0.001) frequencies of the +405G>C polymorphism showed a significant difference between cases and controls. The +405 GG genotype was found more often in patients with an endometrioma >3 cm compared to controls. The frequency of the -460T/+405C haplotype (P = 0.016) was significantly lower in affected women compared to controls.
The -460T/+405C haplotype in the VEGF gene, which is associated with lower promoter activity, was significantly less common in women with endometriosis than in controls. These data suggest that the +405G allele may influence the likelihood of a woman developing the disease.
血管内皮生长因子（VEGF）是血管生成和血管通透性的主要调节因子，已知其在子宫内膜异位症的病理生理学中起关键作用。
在一项病例对照研究中，对215名患病女性和210名无疾病证据的女性检测了VEGF基因5'-非翻译区的单核苷酸多态性-460C>T和+405G>C的关联性。所有女性均为南印度裔，且来自同一家不孕不育诊所。-460C>T多态性的基因型和等位基因频率在病例组和对照组之间无显著差异。相比之下，+405G>C多态性的基因型（P = 0.002）和等位基因（P = 0.001）频率在病例组和对照组之间存在显著差异。与对照组相比，+405 GG基因型在子宫内膜瘤>3 cm的患者中更常见。与对照组相比，患病女性中-460T/+405C单倍型的频率（P = 0.016）显著更低。
VEGF基因中的-460T/+405C单倍型与较低的启动子活性相关，在子宫内膜异位症女性中比对照组显著少见。这些数据表明+405G等位基因可能影响女性患该病的可能性。
