{
  "abstract": "Introduction Endometriosis is a chronic condition affecting 5–10% of women of reproductive age, characterised by ectopic endometrial tissue. Although its symptoms, such as chronic pain, anxiety, and depression, are well-documented, the disease's complex pathophysiology and its association with cardiovascular disease (CVD) remain unclear. Possible theories include hormonal changes and release of pro-inflammatory mediators leading to systemic inflammation. Cohort studies have shown a potential link, but findings remain inconsistent. In addition, a major limitation to causal inference in observational studies is the potential for bias and residual confounding.Methods Using Mendelian randomisation (MR), we investigate the causal relationship between genetically predicted endometriosis and CVD, using data from a genome-wide association study. Sex-specific, uncorrelated ( r 2 < 0.05) single nucleotide polymorphisms associated with each exposure at genome-wide significance (P < 5 × 10−8) were selected as instrumental variants. Instrumental variables were extracted from a GWAS meta-analysis on 60,674 endometriosis cases and 701,926 controls which identified multiple genetic risk loci associated with endometriosis. For the primary analysis, inverse-variance weighted MR was used to examine associations with CVD outcomes, including atrial fibrillation, heart failure, ischaemic stroke and coronary artery disease, as well as cardiac magnetic resonance (CMR) measures of cardiac structure and function.Results No significant association was found between genetically predicted endometriosis and coronary artery disease (OR=1.00, 95%CI 0.93 to 1.07, p=0.933), heart failure (OR=1.00, 95%CI 0.94 to 1.05, p=0.920), ischaemic stroke (OR=0.97, 95%CI 0.91 to 1.03, p=0.342), and atrial fibrillation (OR=1.06, 95%CI 1.00 to 1.12, p=0.059), as well as CMR measures of cardiac structure and function in the left and right heart. Genetically predicted endometriosis was not associated with aorta measurements including proximal pulmonary artery diameter and ascending aorta diameter.Sensitivity analyses indicated potential pleiotropic effects between genetically predicted endometriosis and ascending aorta diameter (MR-Egger intercept test p=0.03, MR-Egger β=0.15 [0.08 to 0.21], p=0.04). Further potential direction pleiotropy was seen between genetically predicted endometriosis and proximal pulmonary artery diameter (MR-Egger intercept test p=0.021, MR-Egger β=0.13 [0.07 to 0.19], p=0.05).The minimum relative risk increase that we had 80% power to detect was 5.3% for AF, 11.5% for CAD, 3.9% for HF and 7.1% for ischaemic stroke.Abstract 7-013 Figure 1Mendelian randomisation estimates for the effects of genetically predicted endometriosis on cardiovascular disease and cardiac magnetic resonance measures of cardiac structure and functionCI=confidence interval, LA max=left atrium maximum volume, LATEF=left atrium total emptying fraction, LVSV=left ventricular stroke volume, LVEF=left ventricular ejection fraction, LVEDV=left ventricular end-diastolic volume, LVESV=left ventricular end-systolic volume, PA/Ao=ratio of the pulmonary artery diameter to the ascending aortic diameter, RA FAC=right atrium fractional area change, RA max=right atrium maximum volume, RA min=right atrium minimum volume, RVEDV=right ventricular end-diastolic volume, RVEF=right ventricular ejection fraction, RVESV=right ventricular end-diastolic volume, RVSV=right ventricular stroke volume, Prox PA diameter=proximal pulmonary artery diameter, PA root diameter=pulmonary artery root diameter.Conclusion MR analyses do not identify any direct evidence to support a causal role of genetically predicted endometriosis on CVD or measures of adverse cardiac structure and function. There was a trend toward an association of genetically predicted endometriosis with higher risk of AF. Further research is warranted when larger data sources become available.",
  "authors": [
    {
      "affiliations": [
        "National Heart and Lung Institute, Imperial College London, London, UK"
      ],
      "name": "Jun Yu Chen"
    },
    {
      "affiliations": [
        "University College London Institute of Cardiovascular Science, London, UK"
      ],
      "name": "Alessandra Maria Ardissino"
    },
    {
      "affiliations": [
        "Royal Berkshire Hospital, Royal Berkshire NHS Trust, Reading, UK"
      ],
      "name": "Ophelia Millar"
    },
    {
      "affiliations": [
        "Obstetrics and Gynaecology, West Middlesex University Hospital, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK"
      ],
      "name": "Joanna Girling"
    },
    {
      "affiliations": [
        "National Heart and Lung Institute, Imperial College London, London, UK",
        "British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK",
        "Senior authors with equal contribution"
      ],
      "name": "Maddalena Ardissino"
    },
    {
      "affiliations": [
        "Royal Berkshire Hospital, Royal Berkshire NHS Trust, Reading, UK",
        "Senior authors with equal contribution"
      ],
      "name": "Fu Siong Ng"
    }
  ],
  "title": "7-013 Exploring the causal relevance of genetically predicted endometriosis on cardiac structure, function and cardiovascular outcomes: a endelian randomisation study",
  "uid": "d0649ee9-763b-5d13-8028-80690f0f82a8"
}