Large study uncovers endometriosis genetic links across ancestries

A major analysis of data from more than a million women has identified hundreds of genes tied to endometriosis. The research also connects the condition to inflammation, cholesterol regulation and gut bacteria changes.

Researchers combined genetic, protein and microbiome data from 14 global biobanks. They found 58 genomic regions associated with endometriosis, including 27 previously unknown ones, and pinpointed 314 specific genes. Three of these genetic regions appeared only when genomes from people of African ancestry were examined. Many of the strongest gene links involved immune function, inflammation and cell movement. The work also tied endometriosis to lower levels of Bifidobacteriaceae bacteria and to factors that raise cardiovascular risks. Shefali Setia-Verma of the University of Pennsylvania noted that years of untreated inflammation may contribute to wider health problems. Nilufer Rahmioglu of the University of Oxford said the inclusion of multiple ancestry groups is a strength, though further studies are needed to confirm treatment targets.

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