Kang Shan, Zhao Jian, Liu Qing, Zhou Rongmiao, Wang Na, Li Yan
Department of Obstetrics and Gynaecology, Hebei Medical University, Shijiazhuang, China.
Environ Mol Mutagen. 2009 Jun;50(5):361-6. doi: 10.1002/em.20455.
Vascular endothelial growth factor (VEGF), a major mediator of angiogenesis and vascular permeability, may play a key role in the development of adenomyosis. The aim of this study was to investigate whether these four VEGF polymorphisms (-2578C/A, -1154G/A, -460C/T, and +936C/T) were associated with the risk of adenomyosis development. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in 174 adenomyosis patients and 199 frequency-matched control women. There were significant differences between patients and control group in allele frequencies and genotype distributions of the -2578C/A polymorphisms (P = 0.010 and 0.044, respectively). Compared with the C/C genotype, the A/A + C/A genotype could significantly modify the risk of developing adenomyosis [odds ratio (OR) = 0.64, 95% confidence interval (CI) = 0.42-0.97]. For the -1154G/A polymorphism, the allele frequencies and genotype distributions in patient group were significant different from those of the controls (P = 0.001 and 0.007, respectively). Compared with the G/G genotype, the A/A + G/A genotype could significantly decrease the risk of developing adenomyosis (OR = 0.51, 95% CI = 0.33-0.80). However, the genotype distributions and allele frequencies of the -460C/T and +936C/T polymorphisms did not significantly differ between controls and patients (all P value > 0.05). The haplotype analysis suggested that the TGA (VEGF -460/-1154/-2578) and CGA haplotypes exhibited a significant decrease in the risk of developing adenomyosis compared with the haplotype of TGC (OR = 0.64, 95% CI = 0.41-1.00; OR = 0.44, 95% CI = 0.21-0.93, respectively). The study indicated that the -2578A or -1154A allele of VEGF gene could significantly decrease the risk of adenomyosis and might be potentially protective factors for adenomyosis development.
血管内皮生长因子（VEGF）是血管生成和血管通透性的主要介质，可能在子宫腺肌病的发生发展中起关键作用。本研究旨在探讨这四种VEGF基因多态性（-2578C/A、-1154G/A、-460C/T和+936C/T）是否与子宫腺肌病的发病风险相关。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法对174例子宫腺肌病患者和199例频率匹配的对照女性进行基因分型。-2578C/A多态性的等位基因频率和基因型分布在患者组和对照组之间存在显著差异（P值分别为0.010和0.044）。与C/C基因型相比，A/A + C/A基因型可显著改变子宫腺肌病的发病风险[比值比（OR）= 0.64，95%置信区间（CI）= 0.42 - 0.97]。对于-1154G/A多态性，患者组的等位基因频率和基因型分布与对照组有显著差异（P值分别为0.001和0.007）。与G/G基因型相比，A/A + G/A基因型可显著降低子宫腺肌病的发病风险（OR = 0.51，95% CI = 0.33 - 0.80）。然而，-460C/T和+936C/T多态性的基因型分布和等位基因频率在对照组和患者组之间无显著差异（所有P值>0.05）。单倍型分析表明，与TGC单倍型相比，TGA（VEGF -460/-1154/-2578）和CGA单倍型的子宫腺肌病发病风险显著降低（OR分别为0.64，95% CI = 0.41 - 1.00；OR = 0.44，95% CI = 0.21 - 0.93）。该研究表明，VEGF基因的-2578A或-1154A等位基因可显著降低子宫腺肌病的发病风险，可能是子宫腺肌病发生发展的潜在保护因素。
