The progins progesterone receptor gene polymorphism is not related to endometriosis‐associated infertility or to idiopathic infertility

OBJECTIVE: This study aimed to determine the frequency of the PROGINS polymorphism in women with endometriosis-associated infertility, in infertile women without endometriosis and in controls. INTRODUCTION: The human progesterone receptor gene has two isoforms that modulate the biological action of progesterone: isoform A, which is capable of inhibiting the activation of the estrogen receptors, and isoform B, which has the capacity to activate the estrogen receptors. Several polymorphisms have been described for this gene, among which one stands out: a polymorphism named PROGINS, which has been speculated to be related to the genesis of endometriosis by several studies with conflicting results. METHODS: This was a prospective study that included 148 patients with endometriosis-associated infertility, 50 idiopathic infertile patients and 179 fertile women as controls. The PROGINS polymorphism was studied by PCR. RESULTS: Genotypes P1P1, P1P2 and P2P2 (P2 representing the PROGINS polymorphism) of the progesterone receptor gene presented frequencies of 93.9%, 5.4% and 0.7%, respectively, in the women with endometriosis-associated infertility (p=0.2101, OR=0.51, 95% CI=0.24-1.09); 94.4%, 4.2% and 1.4%, respectively, in the patients with minimal/mild endometriosis (p=0.2725, OR=0.53, 95% CI=0.20-1.43); 93.5%, 6.5% and 0%, respectively, among the patients with moderate/severe endometriosis (p=0.3679, OR=0.49, 95% CI=0.18-1.31); 86.0%, 14.0% and 0%, respectively, in idiopathic infertile women (p=0.8146, OR=1.10, 95% CI=0.46-2.63); and 88.3%, 10.6% and 1.1%, respectively, in the control group. CONCLUSION: The data suggest that PROGINS is not related either to endometriosis-associated infertility or to idiopathic infertility in the population studied

Analysis of vitamin D receptor gene polymorphisms in women with and without endometriosis

AbstractAn aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Genetic alterations in the vitamin D receptor gene (VDR) may lead to important defects in gene activation that principally affect immune function. We have hypothesized a possible relationship between endometriosis and/or infertility and the VDR polymorphisms (ApaI, TaqI, FokI, and BmsI). The study was a case–control study including 132 women with endometriosis-related infertility, 62 women with idiopathic infertility, and 133 controls. VDR polymorphisms were studied by restriction fragment length polymorphism. We found relatively similar VDR polymorphism genotype frequencies in cases and controls. When patients with minimal/mild and moderate/severe endometriosis were studied separately, no difference was found. When we compared infertile groups with and without endometriosis there was no statistically significant difference. The data suggest that VDR polymorphisms did not play an important role in the pathogenesis of endometriosis and/or infertility in the Brazilian women studied

There is no relationship between Paraoxonase serum level activity in women with endometriosis and the stage of the disease: an observational study

BACKGROUND: Endometriosis is a chronic condition whose pathophysiology is unknown, but there is evidence suggesting a link with oxidative stress. Paraoxonase is a serum enzyme which circulates associated with high-density lipoprotein (HDL). It acts protecting HDL and LDL of lipid peroxidation. We aimed to compare the serum levels of PON-1 activity in women with endometriosis in different stages of the disease (minimal/mild and moderate/severe). METHODS: 80 infertile women with endometriosis diagnosed by laparoscopy/laparotomy with histologic confirmation of the disease were divided according to the American Society for Reproductive Medicine classification in minimal/mild (n = 33) and moderate/severe (n = 47) cases. Paraoxonase activity and arilesterase activity were measured by spectrophotometry. Body mass index and fasting glucose levels were also determined. RESULTS: The paraoxonase activity were 191.29 ± 22.41 U/l in women with minimal/mild endometriosis and 224.85 ± 21.50 U/l in women with moderate/severe disease (P = 0.274). Considering arilesterase level, the results showed 89.82 ± 4.61 U/l in women with minimal/mild endometriosis and 90.78 ± 3.43 U/l in moderate/severe disease (P = 0.888). CONCLUSIONS: Evidence of lower paraoxonase activity in women with endometriosis was not found in this study. Besides, no difference was found considering minimal/mild or moderate/severe endometriosis

Aberrant FOXP3 gene expression in eutopic and ectopic endometrium of infertile women with endometriosis

Background: Immunological theories suggest that changes in the immune system could prevent the ability to eliminate the endometrium of the pelvic cavity. In women with endometriosis is possible that changes in immunity mediated by T cells facilitate the implantation of endometrial fragments or cells in ectopic locations and recent studies have associated the FOXP3 gene with homeostasis of the immune system and the development of autoimmune diseases. We aimed to evaluate the expression of FOXP3 gene in both eutopic and ectopic endometrium of infertile women with endometriosis and controls.Methods: A case-control study was performed comprising 25 infertile women with endometriosis and 44 fertile women without endometriosis. FOXP3 and GAPDH expression was measured by mRNA using quantitative reverse transcription polymerase chain reaction (qRT-PCR) based on TaqMan methodology. The Mann-Whitney test was used to compare the values between the groups.Results: The results disclosed that mean expression of FOXP3 in eutopic endometrium of endometriosis group was significantly higher when compared to the control group (p=0,008), regardless the stage of the disease. Considering the samples of the ectopic endometrium, FOXP3 expression was also significantly higher in endometriosis group compared to the control group (p=0,004), regardless the stage of the disease.Conclusion: the results of this study point to an association between the expression of FOXP3 and the genesis/progression of endometriosis.Â

OC-125 immunostaining in endometriotic lesion samples

To determine the presence of OC-125 staining in endometriotic lesions and to verify whether there is an association with endometriosis stage.Thirteen patients from the Family Planning programs (group I) and 53 patients from the Chronic Pelvic Pain outpatient clinic (group II) were studied. Endometriotic lesions were excised from areas of endometriosis incidence and studied by histopathological assay and by immunohistochemistry for OC-125 staining.The histopathological study disclosed that all patients from group I had minimal/mild endometriosis. in group II, 39.6% had minimal/mild endometriosis, and 60.4% had moderate/severe endometriosis. OC-125 staining was negative in all samples from group I. in group II, OC-125 staining was positive in 52.4% patients with minimal/mild endometriosis and in 81.2% with moderate/severe endometriosis.The data suggest that the OC-125 antibody is probably related to endometriosis activity and, consequently, to the progression and severity of the illness.FMABC, Fac Med ABC, Dept Obstet & Ginecol, Disciplina Genet & Reprod Humana, BR-09060650 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Gynecol, Div Gynecol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Gynecol, Div Gynecol, São Paulo, BrazilWeb of Scienc

Frequency of endometriotic lesions in peritoneum samples from asymptomatic fertile women and correlation with CA125 values

CONTEXT AND OBJECTIVE: Serological testing for CA125 has been widely used to detect endometriosis and to monitor its progression. However, controversy still exists regarding the usefulness of the plasma CA125 assay for diagnosing endometriosis. Furthermore, some authors have described superficial endometriosis as a cyclical and normal phenomenon in women's lives, and have indicated that development and progression of this disease would only occur in some women as a result of immunological changes. This study aimed to determine the frequency of endometriosis and the correlation between serum CA125 levels and the presence of endometriotic lesions in the peritoneum of asymptomatic fertile patients. DESIGN AND SETTING: Cross-sectional study at the Family Planning outpatient clinic of Faculdade de Medicina do ABC. METHODS: Eighty asymptomatic fertile patients who underwent tubal sterilization surgery were studied. Blood and peritoneum samples were collected. CA125 levels were measured from blood samples, and peritoneum biopsies were studied using histopathological tests. RESULTS: Histopathological evaluation of the peritoneum revealed that 16.25% of the patients had minimal or mild endometriosis. There was no statistically significant difference in CA125 levels between patients with and without endometriosis. CONCLUSION: The presence of endometriotic lesions in the peritoneum of fertile patients supports the hypothesis that incidental findings of minimal or mild endometriosis may not be of clinical significance, and that the progression of the disease probably occurs as a result of immunological and genetic abnormalities. Serum CA125 levels did not show any diagnostic significance with regard to detecting the disease