Expressive

rs12126782 - H3-4 - H2AC25

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function. - Nature genetics (2022) · Aung N, Vargas JD, Yang C, Fung K, Sanghvi MM, Piechnik SK, Neubauer S, Manichaikul A, Rotter JI, Taylor KD, Lima JAC, Bluemke DA, Kawut SM, Petersen SE, Munroe PB · PubMed 35697868

    Right ventricular (RV) structure and function influence the morbidity and mortality from coronary artery disease (CAD), dilated cardiomyopathy (DCM), pulmonary hypertension and heart failure. Little is known about the genetic basis of RV measurements. Here we perform genome-wide association analyses of four clinically relevant RV phenotypes (RV end-diastolic volume, RV end-systolic volume, RV stroke volume, RV ejection fraction) from cardiovascular magnetic resonance images, using a state-of-the-art deep learning algorithm in 29,506 UK Biobank participants. We identify 25 unique loci associated with at least one RV phenotype at P < 2.27 ×10 , 17 of which are validated in a combined meta-analysis (n = 41,830). Several candidate genes overlap with Mendelian cardiomyopathy genes and

  • Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity - Unknown journal (n.d.) · Unknown authors · PubMed 37126556

    ABSTRACT: Dysfunction of either the right or left ventricle can lead to heart failure (HF) and subsequent morbidity and mortality. We performed a genome-wide association study (GWAS) of 16 cardiac magnetic resonance (CMR) imaging measurements of biventricular function and structure. Cis-Mendelian randomization (MR) was used to identify plasma proteins associating with CMR traits as well as with any of the following cardiac outcomes: HF, non-ischemic cardiomyopathy, dilated cardiomyopathy (DCM), atrial fibrillation, or coronary heart disease. In total, 33 plasma proteins were prioritized, including repurposing candidates for DCM and/or HF: IL18R (providing indirect evidence for IL18), I17RA, GPC5, LAMC2, PA2GA, CD33, and SLAF7. In addition, 13 of the 25 druggable proteins (52%; 95% confiden

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