Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases. Identification of 55,000 replicated DNA methylation QTL. Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis. Tissue specific regulation of transcription in endometrium and association with disease. Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer’s disease, multiple sclerosis and endometriosis. Genetic influences on endometriosis in an Australian twin sample. American society for reproductive medicine classification of endometriosis: 1996. Impact of endometriosis on quality of life and work productivity: a multicenter study across ten countries. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance ( SRP14/BMF, GDAP1, MLLT10, BSN and NGF). Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Nature Genetics volume 55, pages 423–436 ( 2023) Cite this articleĮndometriosis is a common condition associated with debilitating pelvic pain and infertility. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
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