[Association of single nucleotide polymorphisms in VEGF gene with the risk of endometriosis and adenomyosis].

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AI-generated summary by claude@2026-06, 2026-06-06

The VEGF -1154G/A polymorphism, but not the -460C/T polymorphism, was associated with an increased risk of endometriosis and adenomyosis, with the GG genotype conferring the highest risk.

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AI-generated deep summary by claude@2026-06, 2026-06-06 · read from full text

The study investigated whether single nucleotide polymorphisms in the VEGF gene promoter (-460C/T and -1154G/A) are associated with susceptibility to endometriosis and adenomyosis by genotyping 344 endometriosis patients and 360 controls, and 174 adenomyosis patients and 199 controls using PCR-RFLP. No significant differences were found between either patient group and controls for VEGF -460C/T genotype or allele frequencies (all P>0.05). In contrast, VEGF -1154G/A showed significant differences in both conditions: the GG genotype was associated with higher risk compared with GA+AA (endometriosis OR=1.43, 95% CI 1.05–1.96; adenomyosis OR=1.95, 95% CI 1.26–3.03), and allele frequencies also differed (all P<0.05). The paper does not explicitly discuss limitations in the abstract; it is limited to the two promoter SNPs and the studied sample set. This paper is centrally about endometriosis and adenomyosis — specifically, it tests VEGF promoter -1154G/A and -460C/T polymorphisms for genetic risk association.

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Abstract

OBJECTIVE: To investigate the association of single nucleotide polymorphisms (SNPs) in VEGF gene with the risk of endometriosis and adenomyosis. METHODS: Genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 344 endometriosis patients, 174 adenomyosis patients, 360 frequency-matched control women of endometriosis and 199 frequency-matched control women of adenomyosis. RESULTS: No significant difference was found in allele frequencies and genotype distributions of the -460C/T polymorphism between patients (endometriosis and adenomyosis) and control women (all P value > 0.05). However, there were significant differences in genotype and allele distributions of the VEGF -1154G/A polymorphism between patients (endometriosis and adenomyosis) and control women (all P value < 0.05). The genotype frequencies of the VEGF -1154 AA, GA, and GG in endometriosis patients and control women were 1.7%, 28.8%, 69.5% and 5.8%, 32.8%, 61.4%, respectively; and the A and G allele frequencies in the two groups were 16.1%, 83.9% and 22.2%, 77.8%, respectively. The genotype frequencies of the VEGF -1154 AA, GA, and GG in adenomyosis patients and control women were 2.9%, 23.6%, 73.6% and 7.0%, 34.2%, 58.8%, respectively; and the A and G allele frequencies in the two groups were 14.7%, 85.3% and 24.1%, 75.9% respectively. Compared with GA+ AA genotype, GG genotypes could significantly increase the risk of endometriosis (OR:1.43,95%CI:1.05-1.96) and adenomyosis (OR:1.95,95%CI:1.26-3.03). CONCLUSION: The VEGF -1154G/A polymorphism was associated with susceptibility to endometriosis and adenomyosis, and the GG genotype could significantly increase the risk of developing endometriosis and adenomyosis. However, the VEGF -460C/T polymorphism was not associated with susceptibility to endometriosis and adenomyosis in the population studied.
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VEGF基因多态性与子宫内膜异位症和子宫腺肌病遗传易感性研究 Association of single nucieotide polymorphisms in VEGF gene with the risk of endometriosis and adenomyosis 摘要目的 探讨血管内皮生长因子(vascular endothelial growth factor,VEGF)基因启动子区-460C/T和-1154G/A单核苷酸多态性与子宫内膜异位症和子宫腺肌病发病风险的关系.方法 采用聚合酶链反应-限制性片段长度多态方法检测344例子宫内膜异位症患者(内异症组)和360名对照妇女(对照组)、174例子宫腺肌病患者(腺肌病组)和199名对照妇女(对照组)的VEGF基因2个多态性位点的基因型频率分布情况.结果 VEGF-460C/T多态的基因型和等位基因频率分布在两病例组与其对照组间差异均无统计学意义(P>0.05).在内异症组和对照组中,VEGF-1154G/A多态的AA、GA、GG 3种基因型频率分别是1.7%、28.8%、69.5%和5.8%、32.8%、61.4%,两组比较差异有统计学意义(P=0.006);G、A等位基因频率分别是83.9%、16.1%和77.8%、22.2%,两组比较差异有统计学意义(P=0.004);与GA+AA基因型相比,携带GG基因型明显增加内异症的发病风险(OR=1.43,95%CI:1.05~1.96).在腺肌病组和对照组中,VEGF-1154G/A多态的AA、GA、GG 3种基因型频率分别是2.9%、23.6%、73.6%和7.0%、34.2%、58.8%.两组比较差异有统计学意义(P=0.007);G、A等位基因频率分别是85.3%、14.7%和75.9%、24.1%,两组比较差异有统计学意义(P=0.001);与GA+AA基因型相比,携带GG基因型明显增加腺肌病的发病风险(OR=1.95,95%CI:1.26~3.03).结论 VEGF基因启动子区-1154G/A多态与子宫内膜异位症和子宫腺肌病的发病风险明显相关,携带GG基因型显著增加子宫内膜异位症和子宫腺肌病的发病风险. 更多相关知识 abstractsObjective To investigate the association of single nucleotide polymorphisms (SNPs) in VEGF gene with the risk of endometriosis and adenomyosis. Methods Genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCRoRFLP) method in 344 endometriosis patients, 174 adenomyosis patients, 360 frequency-matched control women of endometriosis and 199 frequency-matched control women of adenomyosis. Results No significant difference was found in allele frequencies and genotype distributions of the - 460C/T polymorphism between patients (endometriosis and adenomyosis) and control women (all P value >0.05). However, there were significant differences in genotype and allele distributions of the VEGF-1154G/A polymorphism between patients (endometriosis and adenomyosis) and control women (all P value <0.05). The genotype frequencies of the VEGF - 1154 AA, GA, and GG in endometriosis patients and control women were 1.7%, 28.8%, 69.5% and 5.8~, 32.8%, 61.4%, respectively; and the A and G allele frequencies in the two groups were 16.1%, 83.9% and 22.2%, 77.8%, respectively. The genotype frequencies of the VEGF-1154 AA, GA, and GG in adenomyosis patients and control women were 2.9%, 23.6%, 73.6% and 7.0%, 34.2%, 58.8%, respectively; and the A and G allele frequencies in the two groups were 14.7%, 85.3% and 24. 1%, 75.9% respectively. Compared with GA+ AA genotype, GG genotypes could significantly increase the risk of endometriosis (OR:1.43,95%CI:1.05-1.96) and adenomyosis (OR: 1.95,95%CI: 1.26-3.03). Conclusion The VEGF-1154G/A polymorphism was associated with susceptibility to endometriosis and adenomyosis, and the GG genotype could significantly increase the risk of developing endometriosis and adenomyosis. However, the VEGF-460C/T polymorphism was not associated with susceptibility to endometriosis and adenomyosis in the population studied. More相关知识 - 浏览412 - 被引5 - 下载136 相似文献 - 中文期刊 - 外文期刊 - 学位论文 - 会议论文

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Condition tags

endometriosisadenomyosis

MeSH descriptors

5' Untranslated Regions Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide Promoter Regions, Genetic Vascular Endothelial Growth Factor A Adult Biophysical Phenomena Endometriosis Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Polymorphism, Genetic Vascular Endothelial Growth Factor A

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