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Genetic and Epigenetic Components in the Pathogenesis of Adenomyosis and Endometriosis in Adolescents.

Background: Adenomyosis and endometriosis are complex, estrogen-dependent gynecological conditions increasingly diagnosed in adolescents. While traditionally considered diseases of reproductive-age women, emerging evidence suggests a possible developmental origin in some cases, …

Published: Dec. 5, 2025, midnight
Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women.

We report the findings of a genome-wide association study (GWAS) meta-analysis of endometriosis across 14 biobanks worldwide, including 32% non-European patient participants, as part of ​the ​Global Biobank Meta-Analys​i​s Initiative​ …

Published: Dec. 4, 2025, midnight
DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs.

Multi-omics data are instrumental in obtaining a comprehensive picture of complex biological systems. This is particularly useful for women's health conditions, such as endometriosis which has been historically understudied despite …

Published: Aug. 21, 2025, midnight
Identification and Validation of Novel Combinatorial Genetic Risk Factors for Endometriosis across Multiple UK and US Patient Cohorts.

Endometriosis affects about 10% of women usually of reproductive age. It often has severe negative impacts on patients' quality of life, but the average time to a definitive diagnosis remains …

Published: Aug. 15, 2025, midnight
Identification of Candidate Genes for Endometriosis in a Three-Generation Family with Multiple Affected Members Using Whole-Exome Sequencing.

Background: Endometriosis is a chronic inflammatory condition affecting 10-15% of women of reproductive age. Genome-wide association studies (GWASs) have accounted for only a fraction of its high heritability, indicating the …

Published: Aug. 6, 2025, midnight
Co-Occurrence of Endometriosis with Systemic Lupus Erythematosus: Genetic Aspects.

Previous studies have shown that patients with a history of endometriosis have an increased susceptibility for developing a big number of comorbidities, including various autoimmune diseases. Endometriosis is a complex, …

Published: July 16, 2025, midnight
NOD1, NOD2, PYDC1, and PYDC2 gene polymorphisms in ovarian endometriosis.

Endometriosis, a prevalent chronic gynecologic disorder, significantly impacts women's health, with both genetic and environmental factors contributing to its heritability. Within the adaptive immune system, the NOD-like receptors (NLR) pathway …

Published: Feb. 17, 2025, midnight
Expanding the genetic landscape of endometriosis: Integrative -omics analyses uncover key pathways from a multi-ancestry study of over 900,000 women.

We report the findings of a genome-wide association study (GWAS) meta-analysis of endometriosis consisting of a large portion (31%) of non-European samples across 14 biobanks worldwide as part of the …

Published: Nov. 29, 2024, midnight
Chronic overlapping pain conditions and nociplastic pain.

Chronic overlapping pain conditions (COPCs) are a subset of chronic pain conditions commonly comorbid with one another and more prevalent in women and individuals assigned female at birth (AFAB). Pain …

Published: Nov. 4, 2024, midnight
Enhancing genetic association power in endometriosis through unsupervised clustering of clinical subtypes identified from electronic health records.

Endometriosis is a complex and heterogeneous condition affecting 10% of reproductive-age women, and yet, it often goes undiagnosed for several years. Limited observed heritability (7%) of large genetic association studies …

Published: Sept. 9, 2024, midnight
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