Expressive

rs12206253 - HMGB3P18 - RNU1-18P

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic and environmental determinants of diastolic heart function - Unknown journal (n.d.) · Unknown authors · PubMed 35479509

    ABSTRACT: Diastole is the sequence of physiological events that occur in the heart during ventricular filling and principally depends on myocardial relaxation and chamber stiffness. Abnormal diastolic function is related to many cardiovascular disease processes and is predictive of health outcomes, but its genetic architecture is largely unknown. Here, we use machine learning cardiac motion analysis to measure diastolic functional traits in 39,559 participants of the UK Biobank and perform a genome-wide association study. We identified 9 significant, independent loci near genes that are associated with maintaining sarcomeric function under biomechanical stress and genes implicated in the development of cardiomyopathy. Age, sex and diabetes were independent predictors of diastolic function

  • Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation - Unknown journal (n.d.) · Unknown authors · PubMed 27841878

    ABSTRACT: Longitudinal electronic health records on 99,785 Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort individuals provided 1,342,814 systolic and diastolic blood pressure measurements for a genome-wide association study on long-term average systolic, diastolic, and pulse pressure. We identified 39 novel among 75 significant loci (P≤5×10−8), most replicating in the combined International Consortium for Blood Pressure (ICBP, n=69,396) and UK Biobank (UKB, n=152,081) studies. Combining GERA with ICBP yielded 36 additional novel loci, most replicating in UKB. Combining all three studies (n=321,262) yielded 241 additional genome-wide significant loci, although for these no replication sample was available. All associated loci explained 2.9%/2.5%/3.1% of systolic/

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