A review of the risk factors, genetics and treatment of endometriosis in Chinese women: a comparative update.
ABSTRACT: Endometriosis is one of the major causes of economic burden and compromised quality of life in a very large percentage of Asian women. While it is perceived as a benign condition, recent research has shown that it may be a significant cause of infertility and metastatic cancer. It has also been associated with other diseases linked to the functioning of the immune system. Genetic as well as environmental factors are known to affect the manifestation and progression of endometriosis. This review aims to summarize recent research pertaining to the risk factors, diagnosis and treatment of endometriosis in Chinese women. It also provides an overview of identified genetic mutations and polymorphisms and their effects on the risk of developing endometriosis in the Chinese population. A comparison has been drawn between Asian and European-American female populations and the differences in risk factors and treatment responses have been summarized. Since traditional Chinese medicine (TCM) is often used to treat endometriosis, wherever possible, a comparison between efficacies of Western medicine and TCM in the Chinese population has also been provided. Although much progress has been made in the treatment and resolution of endometriosis, several gaps remain and this review also highlights possible areas of future research and advancement that can result in an improvement in patient outcomes and quality of life.
Project description:Aim:With a perplexing pathogenesis and an incidence rate of approximately 10% among women of reproductive age, endometriosis affects more women in Asia than in any other continent in the world. This paper reviews the available data on the epidemiology and risk factors associated with endometriosis in East Asia. Methods:Included studies were published between January 2000 and December 2016. Articles were required to include East Asian patients with a diagnosis of endometriosis and to study epidemiology, such as the prevalence and/or incidence, associated with inherited, environmental, and/or lifestyle factors. A total of 65 candidate articles were retrieved and 22 were included in the final review. Results:Only one study provided an estimate of prevalence (6.8%). Short menstrual cycle, family history of endometriosis, and some genetic polymorphisms are associated with the risk of developing endometriosis. Smoking, lower body mass index, and lower parity associated with increased risk of endometriosis were suggested as modifiable factors. Limitations of this study include the poor quality of data identified, and the language barriers behind the study retrieval. Conclusions:Data on the epidemiology of endometriosis in the East Asian populations are limited. The available data that examine potential genetic factors do not unveil whether such factors directly contribute to the increased risk of endometriosis. Further extensive studies on endometriosis in Asian women are required to improve the management of this disease.
Project description:The Fc receptor-like 3 (FCRL3) gene was reported to be linked to a variety of autoimmune diseases, including endometriosis-related infertility. However, this linkage has not been studied in Chinese population and there has been no meta-analysis on the interrelationship of FCRL3 gene and endometriosis-related infertility. The aim of the study was to investigate the association between FCRL3 genetic polymorphisms and the risk of endometriosis-related infertility in Han Chinese, and a further meta-analysis was conducted to confirm our results.Four single nucleotide polymorphisms (SNPs) (rs7528684 [FCRL3_3], rs11264799 [FCRL3_4], rs945635 [FCRL3_5], and rs3761959 [FCRL3_6]) on FCRL3 gene were genotyped in a case-control cohort composed of 217 patients suffering from endometriosis-related infertility and 220 healthy controls using cleaved amplification polymorphism sequence-tagged sites (polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP). Odds ratio (OR) and its 95% confidence interval (CI) was used to evaluate the association quantitatively. Furthermore, a meta-analysis of previous studies including the present study was implemented through Stata 11.0 (Stata Corporation, College Station, TX).We found an approximately 1.4-fold significantly increased frequency of the FCRL3_3 variant in women with endometriosis-related infertility over the controls (OR = 1.41 [95% CI = 1.08-1.84], P = 0.013). However, no significant difference was found between women with endometriosis-related infertility and controls for FCRL3_4, FCRL3_5, and FCRL3_6. Regardless of the symptoms and the revised classification of the American Society of Reproductive Medicine (rASRM) stage of endometriosis, there was a significant association between FCRL3_3 variant and an increased risk of endometriosis-related infertility. Meta-analysis of previous studies combined with the present study further confirmed the association between FCRL3_3 and the risk of endometriosis-related infertility.In summary, the present study suggested that FCRL3_3 variant was associated with an increased risk of endometriosis-related infertility, regardless of symptoms, and rASRM stage of the patients. Meta-analysis of previous studies combined with the present study further confirmed our results. Further large-scale studies in the future are warranted to explore the association between FCRL3 genetic polymorphisms and endometriosis-related infertility, as well as other human diseases, in Asian and other ethnicities.
Project description:The pathogenesis of endometriosis (EMS) is complicated, and treatment results are unsatisfactory. It has become the focus of gynecological research. Analysis targeting the pathogenesis of EMS is the key to providing more effective treatments. In recent years, the superiority of traditional Chinese medicine in treating EMS has been highlighted, so we investigated the impact of a Chinese medicinal formula (Xiao Liu Fang) on the "3A" ability, in situ, of ectopic endometrial stromal cells in patients with EMS. Primary endometrial stromal cells were isolated using a modified net filtration method, cultured, and identified in different groups. Endometrial cell attachment was measured using the methyl thiazolyl tetrazolium (MTT) colorimetric assay, cell aggression was detected by the transwell cell-invasion assay, and angiogenesis was defined by evaluating the mRNA concentrations of intercellular cell adhesion molecule 1 (ICAM-1), cyclooxygenase 2 (COX-2), matrix metallo peptidase 9 (MMP-9), and vascular endothelial growth factor (VEGF). Attachment, aggression, and angiogenesis (AAA) plays an important role in EMS, and a high dose of the Xiao Liu Fang extract can be used for the treatment of EMS owing to its inhibition of the AAA of endometrial stromal cells. Therefore, in-depth studies targeting the effective mechanisms and targets of traditional Chinese medicine (TCM) are of great significance for the prevention and treatment of EMS.
Project description:Endometriosis is a common benign disease in women of reproductive age. It has been defined as a disorder characterized by inflammation, compromised immunity, hormone dependence, and neuroangiogenesis. Unfortunately, the mechanisms of endometriosis have not yet been fully elucidated, and available treatment methods are currently limited. The discovery of new therapeutic drugs and improvements in existing treatment schemes remain the focus of research initiatives. Chinese medicine can improve the symptoms associated with endometriosis. Many Chinese herbal medicines could exert antiendometriosis effects via comprehensive interactions with multiple targets. However, these interactions have not been defined. This study used association rule mining and systems pharmacology to discover a method by which potential antiendometriosis herbs can be investigated. We analyzed various combinations and mechanisms of action of medicinal herbs to establish molecular networks showing interactions with multiple targets. The results showed that endometriosis treatment in Chinese medicine is mainly based on methods of supplementation with blood-activating herbs and strengthening qi. Furthermore, we used network pharmacology to analyze the main herbs that facilitate the decoding of multiscale mechanisms of the herbal compounds. We found that Chinese medicine could affect the development of endometriosis by regulating inflammation, immunity, angiogenesis, and other clusters of processes identified by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses. The antiendometriosis effect of Chinese medicine occurs mainly through nervous system-associated pathways, such as the serotonergic synapse, the neurotrophin signaling pathway, and dopaminergic synapse, among others, to reduce pain. Chinese medicine could also regulate VEGF signaling, toll-like reporter signaling, NF-?B signaling, MAPK signaling, PI3K-Akt signaling, and the HIF-1 signaling pathway, among others. Synergies often exist in herb pairs and herbal prescriptions. In conclusion, we identified some important targets, target pairs, and regulatory networks, using bioinformatics and data mining. The combination of data mining and network pharmacology may offer an efficient method for drug discovery and development from herbal medicines.
Project description:OBJECTIVE:Endometriosis is a common chronic, gynecological disease. Despite many studies on the role of N-acetyltransferase 2 (NAT2) in endometriosis, its clinical significance is unclear. In this study, associations between NAT2 phenotypes as well as single nucleotide polymorphisms (SNPs) within NAT2 (i.e. rs1799929, rs1799930, rs1208, and rs1799931) and endometriosis risk were evaluated using a meta-analysis approach. METHODS:Embase, PubMed, ClinicalTrials.gov, CNKI (China National Knowledge Infrastructure), Wanfang databases, Cochrane Library for clinical trials, and Web of Science were searched to identify relevant articles. ORs (odds ratios) and 95% CIs (95% confidence intervals) were used to estimate the associations between NAT2 polymorphisms and endometriosis risk. Heterogeneity among included studies was also assessed. In addition, a subgroup analysis of NAT2 phenotypes and endometriosis risk based on ethnicity was performed. RESULTS:Nine case-control studies met the inclusion criteria. The odds ratio was 2.30 (95% CI: 1.61-3.28) for the NAT2 slow acetylation phenotype versus the intermediate + fast acetylation phenotype in the Asian population. These results suggest that Asian individuals with the NAT2 slow acetylation phenotype have a 130% increased risk of endometriosis. A significant association was also found for rs1799930 (OR = 0.74; 95% CI, 0.59-0.92), suggesting that individuals with this mutant genotype have a 26% decreased risk of endometriosis. CONCLUSIONS:The rs1799930 mutant genotypes are associated with a decreased risk of endometriosis. No statistically significant associations were found between rs1799931, rs1208, or rs1799929 and endometriosis. Based on a subgroup analysis based on ethnicity, the NAT2 slow acetylation phenotype was found to increase the risk of endometriosis in Asians. No statistically significant associations were found between the NAT2 slow acetylation phenotype and endometriosis risk in Caucasians. Accordingly, NAT2 phenotypes and SNPs are potential biomarkers for the diagnosis and treatment of endometriosis.
Project description:This study was aimed to explore the correlation between catechol-O-methyltransferase (COMT) gene polymorphisms and endometriosis susceptibility in Chinese Han population.This case-control study recruited 134 endometriosis patients and 139 healthy individuals. COMT gene rs4680, rs2020917, and rs4646312 polymorphisms in the subjects were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. Association between COMT polymorphisms and endometriosis susceptibility was evaluated by ? test and adjusted by Logistic regression. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to present the relative risk of endometriosis.A allele of rs4680 was distinctly correlated with increased susceptibility of endometriosis (OR?=?1.450, 95% CI?=?1.012-2.076). However, when adjusted by the confounding factors, these associations become not significant. We failed to find any significant association between rs2020917 and endometriosis risk in the crude results. The adjusted results suggested that rs2020917 TT genotype and T allele were distinctly correlated with enhanced endometriosis risk (TT vs CC: P?=?.038, OR?=?2.894, 95% CI?=?1.060-7.903; T vs C: P?=?.039, OR?=?1.481, 95% CI?=?1.021-2.149). Besides, rs4646312?C allele was significantly correlated with endometriosis risk both in the crude (P?=?.027, OR?=?1.502, 95% CI?=?1.047-2.154) and adjusted (P?=?.019, OR?=?1.564, 95% CI?=?1.078-2.269) results.COMT polymorphisms might predict the occurrence of endometriosis.
Project description:To standardize the recording of surgical phenotypic information on endometriosis and related sample collections obtained at laparoscopy, allowing large-scale collaborative research into the condition.An international collaboration involving 34 clinical/academic centers and three industry collaborators from 16 countries.Two workshops were conducted in 2013, bringing together 54 clinical, academic, and industry leaders in endometriosis research and management worldwide.None.A postsurgical scoring sheet containing general and gynecological patient and procedural information, extent of disease, the location and type of endometriotic lesion, and any other findings was developed during several rounds of review. Comments and any systematic surgical data collection tools used in the reviewers' centers were incorporated.The development of a standard recommended (SSF) and minimum required (MSF) form to collect data on the surgical phenotype of endometriosis.SSF and MSF include detailed descriptions of lesions, modes of procedures and sample collection, comorbidities, and potential residual disease at the end of surgery, along with previously published instruments such as the revised American Society for Reproductive Medicine and Endometriosis Fertility Index classification tools for comparison and validation.This is the first multicenter, international collaboration between academic centers and industry addressing standardization of phenotypic data collection for a specific disease. The Endometriosis Phenome and Biobanking Harmonisation Project SSF and MSF are essential tools to increase our understanding of the pathogenesis of endometriosis by allowing large-scale collaborative research into the condition.
Project description:To harmonize the collection of nonsurgical clinical and epidemiologic data relevant to endometriosis research, allowing large-scale collaboration.An international collaboration involving 34 clinical/academic centers and three industry collaborators from 16 countries on five continents.In 2013, two workshops followed by global consultation, bringing together 54 leaders in endometriosis research.None.Development of a self-administered endometriosis patient questionnaire (EPQ), based on  systematic comparison of questionnaires from eight centers that collect data from endometriosis cases (and controls/comparison women) on a medium to large scale (publication on >100 cases);  literature evidence; and  several global consultation rounds.Standard recommended and minimum required questionnaires to capture detailed clinical and covariate data.The standard recommended (EPHect EPQ-S) and minimum required (EPHect EPQ-M) questionnaires contain questions on pelvic pain, subfertility and menstrual/reproductive history, hormone/medication use, medical history, and personal information.The EPQ captures the basic set of patient characteristics and exposures considered by the WERF EPHect Working Group to be most critical for the advancement of endometriosis research, but is also relevant to other female conditions with similar risk factors and/or symptomatology. The instruments will be reviewed based on feedback from investigators, and-after a first review after 1 year-triannually through systematic follow-up surveys. Updated versions will be made available through http://endometriosisfoundation.org/ephect.
Project description:The purpose of the study was to determine whether diagnosis of endometriosis or endometriosis with endometrioma influences in vitro fertilization (IVF) outcomes in an ethnically diverse population.Women undergoing a first IVF cycle (n = 717) between January 1, 2008 and December 31, 2009, at a university-affiliated infertility clinic, were retrospectively assessed for an endometriosis diagnosis. Differences in prevalence of endometriosis by ethnicity were determined, as well as differences in IVF success by ethnicity, with a focus on country of origin for Asian women. A multivariate model was generated to assess the relative contributions of country of origin and endometriosis to chance of clinical pregnancy with IVF.Endometriosis was diagnosed in 9.5% of participants; 3.5% also received a diagnosis of endometrioma. Endometriosis prevalence in Asian women was significantly greater than in Caucasians (15.7 vs. 5.8%, p < 0.01). Women of Filipino (p < 0.01), Indian (p < 0.01), Japanese (p < 0.01), and Korean (p < 0.05) origin specifically were more likely to have endometriosis than Caucasian women, although there was no difference in endometrioma presence by race/ethnicity. Oocyte quantity, embryo quality, and fertilization rates did not relate to endometriosis. Clinical pregnancy rates were significantly lower for Asian women, specifically in Indian (p < 0.05), Japanese (p < 0.05), and Korean (p < 0.05) women, compared to Caucasian women, even after controlling for endometriosis status.The prevalence of endometriosis appears to be higher in Filipino, Indian, Japanese, and Korean women presenting for IVF treatment than for Caucasian women; however, the discrepancy in IVF outcomes was conditionally independent of the presence of endometriosis. Future research should focus on improving pregnancy outcomes for Asian populations whether or not they are affected by endometriosis, specifically in the form of longitudinal studies where exposures can be captured prior to endometriosis diagnoses and infertility treatment.
Project description:Background: The diagnostic framework and clinical reasoning process of Chinese medicine are central to the practice of acupuncture and other related disciplines. There is growing interest in integrating it into clinical trials of acupuncture and Chinese herbal medicine to guide individualized treatment protocols and evaluate outcomes. Strategies that enhance diagnostic reliability may contribute to this integration. Objectives: (1) To evaluate inter-rater reliability among practitioners of Traditional Chinese Medicine (TCM) when assessing women with dysmenorrhea using a structured assessment questionnaire (Traditional East Asian Medicine Structure Interview [TEAMSI]-TCM) compared to using a TCM questionnaire from routine clinical practice, not developed for research purposes (CONTROL); and (2) To evaluate the impact of training in the use of each approach on reliability. Design: Thirty-eight acupuncturists were asked to complete assessments of 10 subjects based on the viewing of a videotape of the initial assessment interview, a picture of the tongue, and a description of the pulse. Acupuncturists were randomized into one of four groups comparing the use of two questionnaires, TEAMSI-TCM versus CONTROL, and comparing training in the use of each versus no training. Analysis: The authors used Cohen's kappa to estimate agreement on TCM diagnostic categories relevant to dysmenorrhea between 2 practitioners with respect to questionnaires and training over all 10 patients and all 10 TCM diagnostic categories. For all analyses, the authors estimated kappa values for questionnaire, training, and experience level. Analysis of variance was used to test agreement among various groupings. Results: Regardless of the questionnaire used or training, analysis of inter-rater reliability indicated overall agreement to be low among practitioners (median 0.26). Kappa varied slightly by questionnaire and training, among 38 practitioners, but the difference was not statistically significant (p?=?0.227 and p?=?0.126, respectively). Conclusions: A structured assessment interview instrument designed for research purposes with or without training did not significantly improve reliability of TCM diagnosis of dysmenorrhea compared to a commonly used instrument. Challenges in assessing reliability in TCM remain.