August 15, 2025Open Access

Identification and Validation of Novel Combinatorial Genetic Risk Factors for Endometriosis across Multiple UK and US Patient Cohorts

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Combinatorial analysis uncovers 77 novel gene associations with endometriosis in diverse cohorts, suggesting precision medicine implications.

Novel genetic signatures significantly associated with endometriosis found in UK Biobank and All of Us cohorts, enhancing understanding of the disease.
77 unique high-frequency genes identified, including links to autophagy and macrophage biology, with implications for therapeutic discovery.
Rigorous combinatorial analytics identified 1,709 disease signatures from multi-SNP combinations, revealing new genetic associations.
Broad reproducibility of findings across diverse ancestries highlights potential for precision medicine in treating complex diseases.

Sardell et al. (2025) studied this question.

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Combinatorial analysis uncovers 77 novel gene associations with endometriosis in diverse cohorts, suggesting precision medicine implications.