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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.

Objective: To investigate the effect of CDH1 3'-UTR + 54C/T single nucleotide polymorphism (SNP) on expression of luciferase reporter gene and its association with susceptibility to cervical cancer., Methods: The luciferase gene expression vectors containing CDH1 3'-UTR+54C/T SNP C or T allelotype were constructed. The effect of CDH1 3'-UTR+54C/T SNP on expression of luciferase reporter gene in 293 T cells were tested by daul luciferase reporter assay system. The CDH1 3'-UTR+54C/T SNP was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in 280 cervical cancer patients and 330 healthy controls., Results: The luciferase activity analysis showed that the relative luciferase activity (RLA) of 293T cells with C allelotype was 1.46, which was significantly lower than that of the 293 T cells with T allelotype (3.01; t = 2.94, P = 0.042). There was no significant difference in age distribution between the cervical cancer patients and the healthy controls. The genotype frequency distribution of CDH1 3'-UTR+54C/T SNP in healthy controls did not significantly differ from that expected by Hardy-Weinberg equilibrium (P > 0.05). The C allelotype frequency of CDH1 in cervical cancer patients was 80.%, which was significantly higher than that in healthy controls (74.5%; chi2 = 6.59, P = 0.010). The T/T, T/C and C/C genotype frequencies of cervical cancer patients and healthy controls were 4.3%, 30.0%, 65.7% and 5.8%, 39.4%, 54.8%, respectively, which were significantly different (chi2 = 7.45, P = 0.024). Compared with individuals with T/T or T/C genotype, individuals with C/C genotype had significantly higher risks of developing cervical cancer (OR = 1.578, 95% CI = 1.136 - 2.191)., Conclusion: The C allelotype of CDH1 3'-UTR + 54C/T SNP might decrease the expression of luciferase reporter gene and the C/C genotype might be a potential risk for cervical cancer development