Effect of gene polymorphism of TNF-beta on the concentration of TNF in serum of patient with endometriosis / 中南大学学报(医学版)

OBJECTIVE@#To determine the polymorphism in +252 site of tumor necrosis factor-beta(TNF-beta) gene in patients with or without endometriosis, to evaluate the levels of TNF-alpha and TNF-beta in the serum with or without endometriosis, to explore the relation between polymorphism of TNF-beta gene and the genetic susceptibility of endometriosis, and to explore the pathogenic mechanism of endometriosis at gene level.@*METHODS@#By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, polymorphism on +252 site of TNF-beta gene was measured in 82 patients with endometriosis (the endometriosis group) and 80 patients without endometriosis (the control group). With the sandwich-enzyme-linked immunosorbent assay (ELISA), the levels of TNF-alpha and TNF-beta in the serum of the two groups were determined.@*RESULTS@#The TNF-beta level in the serum in the endometriosis group with TNF-beta gene +252 site AA genotype significantly increased, compared with GG genotype (t=2.029, P<0.05); while TNF-alpha and TNF-beta level in the serum had no statistical significance in patients with other genotypes in TNF-beta gene +252 site in the endometriosis group and the control group.@*CONCLUSION@#TNF-beta gene +252 site AA genotype might be enhance TNF-beta level in the serum of patients with endometriosis.

Association of tumor necrosis factors-beta gene polymorphism with endometriosis in women in Guangdong Province / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the polymorphism of +252 site in intron 1 of tumor necrosis factor (TNF)-beta gene in relation to genetic susceptibility of endometriosis.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed to detect the polymorphism of +252 site in intron 1 of TNF-beta gene in 82 Chinese Han patients with endometriosis in Guangdong Province and 80 Han patients without endometriosis (control group), and the relation between TNF gene polymorphism and the risk of endometriosis was analyzed.</p><p><b>RESULTS</b>The +252 site of TNF-beta allele and genotype distribution showed significant difference between endometriosis and control groups (Chi2=6.562, P<0.05; chi2=6.562, P<0.05), and relative risk of endometriosis in relation to allele A was increased by 1.793 fold. The risk of endometriosis was 3.33-fold higher in women of AA genotype than those of GG genotype (Chi2=6.562, P<0.05).</p><p><b>CONCLUSIONS</b>Allele A in TNF-beta gene +252 site can significantly increase the relative risk of endometriosis in women in Guangdong, among which TNF-beta AA genotype might be one of the genetic susceptible factors for endometriosis.</p>