The phenotypic and genetic association between endometriosis and immunological diseases

作者：Nina Shigesi, Holly R. Harris, Hai Fang, Anne Ndungu, Matthew R. Lincoln, Chris Cotsapas, Julian C. Knight, Stacey A. Missmer, Andrew P. Morris, Christian M. Becker, Nilüfer Rahmioğlu, Krina T. Zondervan · 发表于：Human Reproduction · 年份：2025 · DOI：10.1093/humrep/deaf062 · 被引用次数：24 · 研究领域：Endometriosis Research and Treatment、Spondyloarthritis Studies and Treatments、Pregnancy and Medication Impact

STUDY QUESTION: Is there an increased risk of immunological diseases among endometriosis patients, and does a shared genetic basis contribute to this risk? SUMMARY ANSWER: Endometriosis patients show a significantly increased risk of autoimmune, autoinflammatory, and mixed-pattern diseases, including rheumatoid arthritis, multiple sclerosis, coeliac disease, osteoarthritis, and psoriasis, with genetic correlations between endometriosis and osteoarthritis, rheumatoid arthritis, and multiple sclerosis, and a potential causal link to rheumatoid arthritis. WHAT IS KNOWN ALREADY: The epidemiological evidence for an increased risk of immunological diseases among women with endometriosis is limited in scope and has varied in robustness due to the opportunity for biases. The presence of a biological basis for increased comorbidity across immunological conditions has not been investigated. Here we investigate the phenotypic and genetic association between endometriosis and 31 immune conditions in the UK Biobank. STUDY DESIGN, SIZE, DURATION: Phenotypic analyses between endometriosis and immune conditions (17 classical autoimmune, 10 autoinflammatory, and 4 mixed-pattern diseases) were conducted using two approaches (8223 endometriosis, 64 620 immunological disease cases): (i) retrospective cohort study design to incorporate temporality between diagnoses and (ii) cross-sectional analysis for simple association. Genome-wide association studies (GWAS) and meta-analyses for those immune c...