Relationship Between Endometriosis And Polymorphisms Of PAI-1 And TGF-β1 Gene

Objictive:Explore the plasminogen activator inhibitor -1 (PAI-1) gene promoter -675 locus 4G/5G gene, transforming growth factor-β1 (TGF-β1) -509 site C/T gene polymorphism women of childbearing age in China's Hebei Province and endometriosis of the relationship between genetic susceptibility.Methods: Group of patients with endometriosis: A total 75 women undergoing laparotomy or laparoscopy for endometriosis in the Department of Obstetrics and Gynecology of the Second Affiliated Hospital of Hebei Medical University. Diagnosis of endometriosis was establishied laparoscopically and histologically. Control group: 82 women were from non-endometriosis patients who were such conditions as reananstomosis infertility or ovarian dysembryoma or simple cyst, and without pelvic endometriosis and adenomyosis and adenomyosis evidenced by laparotomy or laparoscopy, with no history of endometriosis. Two objects are the Han people in Hebei province, no kinship. All patients have no significant family history of genetic. The genomic DNA was prepared from peripheral blood leukocytes by the use of a genomic DNA isolation kit. The DNA was stored at -80 oC until analyzed. PAI-1 and TGFβ1 fragment was amplified by polymerase chain reaction (PCR). According to the size of the product samples to determine the genotype. Direct counting method used to calculate the allele frequency of the phenotype, look with the Hard-Weinberg analysis of genetic equilibrium. Usingχ2 test and the OR value analysis PAI-1 gene -675 * 4G/5G, TGF-β1 gene -509*C/T polymorphism and endometriosis of the relationship between the application of statistical software SPSS13.0.Results: Hardy-Weinberg analysis was performed to compare the observed and expected genotype frequencies using Chi-square test, finally shows P>0.05, indicated in choosing the community the candidate gene has reached the heredity balance.Among 75 patients with stageⅢ,Ⅳendometriosis and 82 controls, proportions of PAI-1 -675*4G homozygote,4G/5Gheterozygote,5G homozygote in the group of endome- triosis were 69.3/28.0/2.7% , and in the control group were 56.1/31.7/12.2%, respectively (χ2=69.142, P=0.000,P<0.05). Statistic analysis suggested PAI-1 genotype polymorphism icreases risk ofⅢ,Ⅳendometriosis. PAI-14G/5G genotypes OR=18.58(95%CI 5.36-64.37) or 4G/4G genotypes OR=119.6 (95%CI 38.61-370.5) compared with PAI-1 5G/5G genotypes. The percentage of PAI-1-675*4G/5G alleles in both groups were83.3/16.7% and 28.1/ 72.9%, respectively (χ2=96.55, P=0.000, P<0.05). OR= 12.83(95%CI 7.71-21.34)A statistic differences was found between the two groups. Statistic analysis suggested PAI-1-675*4G-related genotypes and alleles are associated with higher susceptibility to endometriosis. PAI-1- 675*4G/5G gene polymorphisms might be associated withⅢ,Ⅳe ndometriosis development.Proportions of TGF-β1-509* C homozygote,C/T hetero- zygote,T homozygote in the group of endometriosis were: 10.7/58.7/30.7%, and in the control group were 57.3/41.5/1.2%, respectively(χ2=35.09, P=0.000, P<0.05. Statistic analysis suggested TGF-β1-509*C/T genotype polymorphism icreases risk ofⅢ,Ⅳendometriosis. TGFβ1*C/T genotypes OR=7.6(95%CI 3.36-17.18) or T/T genotypes OR=47(95%CI 15.51-142.46) compared with C/C genotypes. The percentage of TGF-β1-509*C/T alleles in both groups were 40/60% and 78/22%, respectively (χ2=47.208, P=0.000, P<0.05). OR= 5.33(95%CI 3.31-8.59).A statistic differences was found between the two groups. Statistic analysis suggested TGF-β1-509 *T-related genotypes and alleles are associated with higher susceptibility to endometriosis. TGF-β1-509*C/T gene polymorphisms might be associated withⅢ,Ⅳendometriosis development.Conclusion: 1. These results suggest that the PAI-1 polymorphism may contribute to the genetic influence on stageⅢ,Ⅳendometriosis.2. These results suggest that the TGF-β1 polymorphism may contribute to the genetic influence on stageⅢ,Ⅳendometriosis.