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Endometriosis GWAS Highlights Overlap With Pain, Inflammatory Conditions

In Nature Genetics, an international team of researchers from academia and industry describes genetic loci linked to endometriosis, including variants that overlap with other pain- or inflammation-related conditions. The team focused in on 49 variants at 42 loci with genome-wide significant ties to endometriosis risk in a genome-wide association meta-analysis that included 60,674 cases of European or East Asian ancestry enrolled in two dozen prior GWAS, along with more than 701,900 unaffected individuals from the same populations. Together, the endometriosis-associated variants appeared to explain more than 5 percent of the variation associated with the disease, though genetic effects were most pronounced in stage 3 or stage 4 disease, the authors report. The risk variant set included gene expression or methylation regulators with apparent impacts on genes implicated in other pain-related processes, and the authors' subsequent analyses highlighted apparent overlap between endometriosis and conditions such as multisite chronic pain (MCP), migraine headache, asthma, and osteoarthritis. "Our identification of a range of genes with strong evidence for causal association with endometriosis should inform new avenues of targeted research into gene-specific mechanisms of pain and pathogenesis," they write, "with the potential to identify new — or repurposing of existing — treatment targets for this debilitating, enigmatic disease."