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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Conceptual illustration of gut bacteria producing inflammatory glycogen triggering brain inflammation in C9orf72-linked ALS and FTD, with stool sample comparisons and mouse treatment outcomes.
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Study links microbial glycogen in the gut to inflammation in C9orf72-associated ALS and frontotemporal dementia

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Researchers at Case Western Reserve University report that some gut bacteria can make unusually inflammatory forms of glycogen and that this microbial glycogen can trigger immune activity linked to brain inflammation in models of disease tied to the C9orf72 mutation. In patient stool samples, the team found these glycogen forms more often in ALS and C9orf72-related frontotemporal dementia than in healthy controls, and enzymatically breaking down glycogen in the gut improved outcomes in mice.

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A major analysis of genetic data has linked 127 gene locations to Alzheimer’s disease, including 48 previously unidentified ones. Researchers also flagged several genes as promising drug targets and highlighted changes in immune and nerve cells.

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