PubMed · 6864031
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K Momose. 1983. [Hysterosalpingography].. https://pubmed.ncbi.nlm.nih.gov/6864031/
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BACKGROUND: Endometriosis affects about 10% of women usually of reproductive age. It often has severe negative impacts on patients' quality of life, but the average time to a definitive diagnosis remains 7-9 years, and there are few effective therapeutic options. Relatively little is known about the genetic drivers of the disease even though its heritability is fairly high. A recent large genome wide association study (GWAS) meta-analysis identified 42 genomic loci associated with risk of endometriosis, but together these explain only 5% of disease variance. METHODS: We used the PrecisionLife® combinatorial analytics platform to identify multi-SNP disease signatures significantly associated with endometriosis in a white European UK Biobank (UKB) cohort. We assessed the reproducibility of these multi-SNP disease signatures as well as 35 of the 42 meta-GWAS SNPs in a multi-ancestry American endometriosis cohort from All of Us (AoU) after controlling for population structure. RESULTS: We identified 1,709 disease signatures, comprising 2,957 unique SNPs in combinations of 2-5 SNPs, that were associated with increased prevalence of endometriosis in UKB. Pathways enriched in the disease signatures included cell adhesion, proliferation and migration, cytoskeleton remodeling, angiogenesis as well as biological processes involved in fibrosis and neuropathic pain.We observed a significant enrichment of these signatures (58-88%, p<0.04) that are also positively associated with endometriosis in the AoU cohort, including one 2-SNP signature that is individually significant. Reproducibility rates were greatest for higher frequency signatures, ranging from 80-88% for signatures with greater than 9% frequency (p<0.01) in AoU. Encouragingly, the disease signatures also show high reproducibility rates in non-white European AoU sub-cohorts (66-76%, p<0.04 for signatures with greater than 4% frequency).A total of 195 unique SNPs mapping to 98 genes were identified in the high frequency reproducing signatures (>9%). Of these, 7 genes were previously identified in the endometriosis meta-GWAS study and 16 genes have a previous association with endometriosis. 75 novel genes were identified in this study.We characterized 9 novel genes that occur at the highest frequency in reproducing signatures and that do not contain any SNPs linked to known GWAS genes, providing new evidence for links between endometriosis and autophagy and macrophage biology. Reproducibility rates, ranging between 73% to 85%. are especially strong for the signatures that contain these 9 genes independently of any SNPs mapping to the meta-GWAS genes. CONCLUSION: Although using much smaller, less well-characterized datasets than the previous whole genome meta-GWAS study, combinatorial analysis has provided important new insights into the genetics and biology of endometriosis including reproducible biologically relevant genes that are overlooked by GWAS approaches.The 75 novel gene associations provide new insights and routes for study of the disease and potential new therapies. Several of the novel genes identified are credible targets for drug discovery, repurposing and/or repositioning. Using the disease signatures identified as genetic biomarkers in trials of candidates drugs targeting specific mechanisms will enable precision medicine-based approaches. We hope this will encourage new targeted therapy discovery efforts.
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OBJECTIVES: To assess the efficacy of laparoscopic surgery in the treatment of pelvic pain associated with endometriosis. The review aims to compare the effectiveness of any laparoscopic procedure versus any other treatment modality, including expectant management. SEARCH STRATEGY: The search strategy of the Menstrual Disorders and Subfertility Review Group was used to identify all publications that described or might have described randomised trials of laparoscopic surgery in the treatment of symptomatic endometriosis. For a full description of the Review Group strategy see the Review Group details. SELECTION CRITERIA: Trials were selected if they were randomised and compared the effectiveness of laparoscopic surgery in the treatment of pelvic pain associated with endometriosis, with other treatment modalities or placebo. DATA COLLECTION AND ANALYSIS: One study had data appropriate for inclusion within the review. This study compared laparoscopic laser surgery with diagnostic laparoscopy. Pain relief was the primary outcome measure. The data was extracted independently by two reviewers. MAIN RESULTS: In comparison to expectant treatment there is a significant degree of pain relief at six months after surgery with laser laparoscopic surgery for minimal, mild and moderate endometriosis. Odds Ratio (OR) 4.97, 95% Confidence Interval (CI) 1.85,13.39 REVIEWER'S CONCLUSIONS: The combined surgical approach of laparoscopic laser ablation, adhesiolysis and uterine nerve ablation is likely to be a beneficial treatment for pelvic pain associated with minimal, mild and moderate endometriosis. As only one trial is included in the analysis, this conclusion should be interpreted with caution.