Endometriosis ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Single Nucleotide ; Vascular Endothelial Growth Factor A ; genetics

OBJECTIVETo investigate the correlation between glutathione S-transferase (GST) M1 and T1 genotypes and endometriosis risk (EM).

METHODSPolymerase chain reaction (PCR) technique was used to detect the presence or absence of the GSTM1 and GSTT1 genes in genomic DNA isolated from the blood samples of 68 Han Chinese women with endometriosis and 28 without endometriosis.

RESULTSThe frequencies of GSTM1 and GSTT1 null genotypes in women with endometriosis were 0.721 (49/68) and 0.779 (53/68), respectively, and in women without endometriosis were 0.429 (12/28) and 0.321 (9/28), respectively. There was a significant difference with regard to the frequencies of GSTM1 and GSTT1 null genotypes between the women with and without endometriosis (P < 0.01). Furthermore, the frequencies of GSTM1 and GSTT1 null genotypes were significantly higher in the patients with stage III and IV endometriosis [0.731 (38/52) and 0.788 (41/52), respectively] than in women without endometriosis (P < 0.01), and the frequency of GSTT1 null genotype was statistically higher in patients with stage I and II endometriosis [0.75 (12/16)] than in the women without endometriosis (P < 0.01). No correlation between GSTM1 and GSTT1 null genotypes and age, induced abortion or dysmenorrhea was detected in this study (P > 0.05).

CONCLUSIONGSTM1 and GSTT1 null genotypes may be risk factors for the development of endometriosis.

Adult ; Case-Control Studies ; Endometriosis ; enzymology ; genetics ; pathology ; Female ; Genotype ; Glutathione Transferase ; genetics ; Humans ; Risk Factors

OBJECTIVETo investigate whether the 115T/C, 240A/G and 1531C/T polymorphisms of CYP19 gene are associated with the risk of moderate/severe endometriosis.

METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to identify the CYP19 gene polymorphism in Chinese patients with endometriosis of III-IV stage (n= 102) and individuals without endometriosis (n= 100).

RESULTSThe frequencies of CYP19 gene 115T/C, TT, TC and CC were 0.9118, 0.0882 and 0 in the endometriosis group, and 0.8800, 0.1100 and 0.0100 in the control group, respectively. The frequencies of 115T and C alleles in both groups were 0.9559 and 0.0441, and 0.9350 and 0.0650, respectively (P> 0.05). The frequencies of CYP19 gene 240AA, AG and GG were 0.2745, 0.4902 and 0.2353 in the endometriosis group, and 0.4500, 0.4100 and 0.1400 in the control group, respectively. The frequencies of 240A and G alleles in both groups were 0.5196 and 0.4804, and 0.6550 and 0.3450, respectively (P< 0.05). The frequencies of CYP19 gene 1531C/T, CC, CT and TT were 0.4118, 0.4706 and 0.1176 in the endometriosis group, and 0.3800, 0.4200 and 0.200 in the control group, respectively. The frequencies of 1531C and T alleles in both groups were 0.6471 and 0.3529, and 0.5900 and 0.4100, respectively (P> 0.05).

CONCLUSIONCYP19 gene 240G/G polymorphism may contribute to the susceptibility of stages III and IV endometriosis but there was no association between CYP19 gene 115T/C and 1531C/T polymorphisms and stage III and IV endometriosis.

Aromatase ; genetics ; Case-Control Studies ; Endometriosis ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Polymorphism, Genetic ; genetics

OBJECTIVETo investigate the association of interleukin 6 gene (IL-6) promoter region 634C/G (rs1800796) single nucleotide polymorphism (SNP) with the genetic susceptibility to endometriosis (Ems) in south Han Chinese women.

METHODSA case-control study was performed in 432 Ems patients and 499 control women to evaluate the SNP of IL-6 634C/G by using a fluorescent quantitative PCR-based high resolution melting (HRM) method.

RESULTSThere were statistical significances in the IL-6 634C/G alleles, whether or not to carry allele G and genotype distributions between Ems patients and control women (P=0.032, 0.014 and 0.045, respectively). Allele C enhanced the risk of Ems 1.057 times while allele G reduced the risk of Ems 0.835 time. Carrying allele G reduced the risk of Ems 0.822 time, whereas not carrying allele G enhanced the risk of Ems 1.143 times. Compared with genotype CC, the risk of Ems with genotype CG reduced 0.704 time (95% CI: 0.533-0.931). There was no significant difference in whether or not carrying allele G distribution between Ems patients and control women (P=0.729).

CONCLUSIONThe present study demonstrated significant association between the SNP of IL-6 634C/G and genetic susceptibility to Ems in south Han Chinese women.

Alleles ; Case-Control Studies ; Endometriosis ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Interleukin-6 ; genetics ; Polymorphism, Single Nucleotide ; genetics

OBJECTIVE: To investigate the expression of cyclooxygense-2 (COX-2) in eutopic and ectopic endometrium in ovarian endometriosis. METHODS: Thirty patients with ovrian endometriosis, 10 with ovarian chocolate cysts and 27 normal controls were enrolled it determine the expression of COX-2 immunohistochemically in eutopic or ectopic endometrium or healthy endometrial tissues. RESULTS: The immunoreactivities of COX-2 were found in epithelial cells and stromal cells in eutopic endometrium. The expression of COX-2 in the epithelial cells in the secretory phase was higher than that in the proliferative phase in the control group and ovarian endometriosis group (P <0. 05). But the expression of COX-2 in stromal cells in the control group and ovarian endometriosis group showed no cyclic changes throughout the menstrual cycle (P > 0. 05). The expression of COX-2 in eutopic and ectopic endometrium in the ovarian endometriosis group was higher than that in the control group (P <0. 05) , hut we did not find significant difference between the eutopic and ectopic endometrium in the ovarian endometriosis group (P > 0. 05). CONCLUSION The increased COX-2 expression in eutopic and ectopic endometrium in ovarian endometriosis may he related to its pathology.
Adult ; Cyclooxygenase 2 ; biosynthesis ; genetics ; Endometriosis ; enzymology ; Endometrium ; enzymology ; Female ; Humans ; Immunohistochemistry ; Ovarian Diseases ; enzymology

Epigenetics refers to heritable changes in gene expression and function without alterations in gene sequences,including DNA methylation,histone modification,and non-coding RNAs.Endometriosis is a benign gynecological disease that affects the fertility and health of reproductive-age women,the etiology of which remains unclear.The recent studies have demonstrated that epigenetics plays a key role in the occurrence and development of endometriosis.This article reviews the research progress in the regulatory mechanism and application of epigenetics in endometriosis.
Female ; Humans ; Endometriosis/genetics* ; Epigenesis, Genetic ; DNA Methylation ; Protein Processing, Post-Translational

BACKGROUNDNumerous studies have described the association between polymorphisms in the tumor necrosis factor (TNF) gene and risk of endometriosis. However, the results remain controversial. Here we reviewed studies reporting the association between TNF gene polymorphisms and endometriosis risk in Asians.

METHODSPubMed and Embase were searched. Twelve case-control studies assessing the role of multiple TNF gene polymorphisms in endometriosis were included. If no less than two articles evaluated one variant, meta-analysis was conducted; otherwise, narrative analysis was chosen. A fixed- or random-effects model was employed according to the heterogeneity among studies. The strength of the association between TNF gene polymorphisms and endometriosis risk was assessed by odds ratios and 95% confidence intervals.

RESULTSFor TNF-α -238G>A, -308G>A, -857C>T, and -863C>A, no significant associations were identified from all genetic models. For TNF-a -850T>C, results from one study showed that patients harboring the heterozygote TC were less susceptible to endometriosis than patients harboring the homozygote TT. For TNF-a -1031T>C, a mild increase in endometriosis risk was found in the Asian population. Meta-analysis from two studies found that the TNF-β +252>G polymorphism had a protective effect in Chinese individuals. Due to the limitations of the included studies, it is necessitated to perform more studies to elucidate the possible roles of TNF gene polymorphisms in the pathogenesis of endometriosis.

CONCLUSIONSTNF-α -1031T>C and TNF-β +252A>G were significantly associated with the risk of endometriosis in Asian and Chinese populations, respectively. To further evaluate these associations, more large-scale, rigorously designed studies are needed.

Asian Continental Ancestry Group ; Case-Control Studies ; Endometriosis ; epidemiology ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Polymorphism, Genetic ; genetics ; Polymorphism, Single Nucleotide ; genetics ; Tumor Necrosis Factor-alpha ; genetics

OBJECTIVETo detect the expression of hypoxia-inducible factor-1alpha(HIF-1alpha) in endometriosis and explore the possible role of HIF-1alpha in the pathogenesis of endometriosis.

METHODSImmunohistochemistry was performed to examine the expression of HIF-1alpha in 20 normal endometrium, 20 ectopic endometrium and 68 eutopic endometrium specimens from 68 endometriosis patients, and the results were analyzed statistically.

RESULTSThe expression of HIF-1alpha was significantly increased in ectopic endometrium than in normal endometrium (P<0.01), and the expression did not undergo changes with the normal menstrual cycle in the three types of endometrium.

CONCLUSIONHIF-1alpha expression increases in ectopic endometrium, suggesting that HIF-1alpha plays an important role in the pathogenesis of endometriosis.

Adult ; Endometriosis ; genetics ; Endometrium ; metabolism ; Female ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; genetics ; metabolism ; Menstrual Cycle ; metabolism

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.
Adolescent ; Adult ; Endometriosis ; blood ; genetics ; Female ; Humans ; Lymphotoxin-alpha ; blood ; genetics ; Polymorphism, Genetic ; Tumor Necrosis Factor-alpha ; blood ; Young Adult

OBJECTIVETo assess the possible association between gene mutation of cytochrome P450 1A1(CYP1A1) in exon 7 A4889G locus and the susceptibility to endometriosis (EM).

METHODSAllele specific-polymerase chain reaction method was used to analyze gene mutation in exon 7 A4889G locus of CYP1A1 in 76 patients with endometriosis and 80 healthy controls.

RESULTSThe frequency of allele G on A4889G locus of CYP1A1 gene showed a significant difference between the study cohort and the control group (Chi2=7.498, P<0.01), with an odds ratio of 1.957. Statistically significant difference in the frequencies of genotypes AA, AG and GG was observed between the two groups (Chi2=6.915, P<0.05). Individuals with homozygotes for G allele were at higher risk of suffering from EM when compared against those with homozygotes for A allele, the odds ratio being 3.437 (Chi2=5.430, P<0.05).

CONCLUSIONThe above results suggest that gene mutation of CYP1A1 in exon 7 A4889G locus might be a genetic susceptible factor of endometriosis. The mutation allele of CYP1A1 gene appears to increase the risk of endometriosis.

Alleles ; Cytochrome P-450 CYP1A1 ; genetics ; Endometriosis ; genetics ; Exons ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Mutation ; Polymerase Chain Reaction ; Pregnancy