medRxiv : the preprint server for health sciences

Inflammatory resolution is essential for tissue health, yet its dynamics remain difficult to study in humans. Menstruation is a recurrent, non-pathological inflammatory process that provides a natural window into inflammation and repair. We…

Endometriosis is a prevalent, complex, inflammatory condition associated with a diverse range of symptoms and comorbidities. Despite its substantial burden on patients, population-level studies that explore its comorbid patterns and heterog…

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 having a…

We performed a genome-wide association meta-analysis of generalised anxiety symptom severity in 696,563 individuals of European ancestry from 14 cohorts. We identified 82 independent genome-wide significant variants within 76 loci, 41 of wh…

BACKGROUND: 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 7-9 years, and there are few effecti…

We conducted a multi-ancestry genome-wide association study of endometriosis and adenomyosis in almost 1.4 million women, including 105,869 cases, aiming to expand endometriosis loci discovery across ancestries, dissect symptom-specific eff…

Endometriosis is a common chronic gynecological disorder with complex and poorly understood etiology and no definitive cure. Beyond pain and infertility, affected individuals frequently experience psychiatric comorbidities, often attributed…

BACKGROUND: Endometriosis affects 10% of reproductive-age women, and yet, it goes undiagnosed for 3.6 years on average after symptoms onset. Despite large GWAS meta-analyses (N > 750,000), only a few dozen causal loci have been identified. …

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 Global Biobank Meta-Analysis Initiative …

Genome-wide association studies (GWASs) may help inform treatments for infertility, whose causes remain unknown in many cases. Here we present GWAS meta-analyses across six cohorts for male and female infertility in up to 41,200 cases and 6…

Natural dizygotic twinning (DZT) results from hyper-ovulation and is considered an indicator of female fertility. DZT has low polygenicity, with only 0.20% of SNPs estimated to have a nonzero effect. A polygenic score (PGS) for DZT explains…

STUDY QUESTION: Do recent changes in European Society of Human Reproduction and Embryology (ESHRE) clinical guidelines result in more comprehensive diagnosis of women with endometriosis? SUMMARY ANSWER: The latest shift in clinical guideli…

BACKGROUND: Endometriosis is a chronic disease with a long time to diagnosis and several known comorbidities that requires a range of treatments including of pain management and hormone-based medications. Racial disparities specific to endo…

OBJECTIVE: Female reproductive disorders (FRDs) are common health conditions that may present with significant symptoms. Diet and environment are potential areas for FRD interventions. We utilized a knowledge graph (KG) method to predict fa…