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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Illustration of a pregnant woman with DNA and genetic research elements representing a study on hyperemesis gravidarum.
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Genetic study links six new risk loci to hyperemesis gravidarum, expanding understanding of severe pregnancy nausea

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Researchers analyzing genetic data from more than 10,000 people with hyperemesis gravidarum have identified six additional genomic regions associated with the condition, confirming several previously known links and pointing to biological pathways involved in appetite, insulin signaling and brain function.

Adenomyose, eine gynäkologische Erkrankung, die starke Menstruationsschmerzen und schwere Blutungen verursacht, betrifft 20 bis 35 Prozent der Frauen im gebärfähigen Alter. Trotz ihrer Verbreitung bleibt sie aufgrund der Normalisierung von Schmerzen bei Frauen oft unsichtbar. Experten mahnen dazu, Symptome für eine rechtzeitige Diagnose ernst zu nehmen.

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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.

Researchers have uncovered links between microbes in the mouth and metabolic conditions like obesity, pre-diabetes, and fatty liver disease. The study analyzed oral swabs from over 9,000 participants using advanced sequencing techniques. Experts suggest these findings could lead to simple swab-based screenings.

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