medRxiv : the preprint server for health sciences

BACKGROUND: Endometriosis is a chronic gynecologic condition which has been linked with higher cardiovascular disease (CVD) risk. Although systemic inflammation is central to endometriosis and CVD pathophysiology, it remains unclear whether…

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…

OBJECTIVE: This study aims to evaluate the short form International Physical Activity Questionnaire (IPAQ) for use in women with chronic pelvic pain disorders (CPPDs) by comparing its scores against objectively-estimated physical activity (…

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…