Expressive

rs11153730 - SLC35F1 - CEP85L

Magnitude 2.2 · 8 studies on file

Reported associations

  • Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. - Human molecular genetics (2017) · Evans DS, Avery CL, Nalls MA, Li G, Barnard J, Smith EN, Tanaka T, Butler AM, Buxbaum SG, Alonso A, Arking DE, Berenson GS, Bis JC, Buyske S, Carty CL, Chen W, Chung MK, Cummings SR, Deo R, Eaton CB, Fox ER, Heckbert SR, Heiss G, Hindorff LA, Hsueh WC, Isaacs A, Jamshidi Y, Kerr KF, Liu F, Liu Y, Lohman KK, Magnani JW, Maher JF, Mehra R, Meng YA, Musani SK, Newton-Cheh C, North KE, Psaty BM, Redline S, Rotter JI, Schnabel RB, Schork NJ, Shohet RV, Singleton AB, Smith JD, Soliman EZ, Srinivasan SR, Taylor HA, Van Wagoner DR, Wilson JG, Young T, Zhang ZM, Zonderman AB, Evans MK, Ferrucci L, Murray SS, Tranah GJ, Whitsel EA, Reiner AP, Sotoodehnia N · PubMed 27577874

    The electrocardiographic QRS duration, a measure of ventricular depolarization and conduction, is associated with cardiovascular mortality. While single nucleotide polymorphisms (SNPs) associated with QRS duration have been identified at 22 loci in populations of European descent, the genetic architecture of QRS duration in non-European populations is largely unknown. We therefore performed a genome-wide association study (GWAS) meta-analysis of QRS duration in 13,031 African Americans from ten cohorts and a transethnic GWAS meta-analysis with additional results from populations of European descent. In the African American GWAS, a single genome-wide significant SNP association was identified (rs3922844, P = 4 × 10 ) in intron 16 of SCN5A, a voltage-gated cardiac sodium channel gen

  • Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders - Unknown journal (n.d.) · Unknown authors · PubMed 34274964

    ABSTRACT: Abstract The resting QT interval, an electrocardiographic (ECG) measure of ventricular myocardial repolarization, is a heritable risk marker of cardiovascular mortality, but the mechanisms remain incompletely understood. Previously reported candidate genes have provided insights into the regulatory mechanisms of the QT interval. However, there are still important knowledge gaps. We aimed to gain new insights by (i) providing new candidate genes, (ii) identifying pleiotropic associations with other cardiovascular traits, and (iii) scanning for sexually dimorphic genetic effects. We conducted a genome-wide association analysis for resting QT interval with ~9.8 million variants in 52 107 individuals of European ancestry without known cardiovascular disease from the UK Biobank. We

  • Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits - Unknown journal (n.d.) · Unknown authors · PubMed 30679814

    ABSTRACT: Genome-wide association studies (GWAS) of quantitative electrocardiographic (ECG) traits in large consortia have identified more than 130 loci associated with QT interval, QRS duration, PR interval, and heart rate (RR interval). In the current study, we meta-analyzed genome-wide association results from 30,000 mostly Dutch samples on four ECG traits: PR interval, QRS duration, QT interval, and RR interval. SNP genotype data was imputed using the Genome of the Netherlands reference panel encompassing 19 million SNPs, including millions of rare SNPs (minor allele frequency < 5%). In addition to many known loci, we identified seven novel locus-trait associations: KCND3, NR3C1, and PLN for PR interval, KCNE1, SGIP1, and NFKB1 for QT interval, and ATP2A2 for QRS duration, of which

  • 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

  • Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction - Unknown journal (n.d.) · Unknown authors · PubMed 32439900

    ABSTRACT: The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33.5% to 62.6%. We observe enrichment for cardiac muscle developmental/contractile and cytoskeletal genes, highlighting key regulation processes for atrioventricular conduction. Additionally, 8 loci not previously reported harbor genes underlying inherited arrhythmic syndromes and/or cardiomyopathies suggesting a role for

  • Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies - Unknown journal (n.d.) · Unknown authors · PubMed 19587794

    ABSTRACT: To identify loci affecting the electrocardiographic QT interval, a measure of cardiac repolarisation associated with risk of ventricular arrhythmias and sudden cardiac death, we conducted a meta-analysis of three genome-wide association studies (GWAS) including 3,558 subjects from the TwinsUK and BRIGHT cohorts in the UK and the DCCT/EDIC cohort from North America. Five loci were significantly associated with QT interval at P<1×10−6. To validate these findings we performed an in silico comparison with data from two QT consortia: QTSCD (n = 15,842) and QTGEN (n = 13,685). Analysis confirmed the association between common variants near NOS1AP (P = 1.4×10−83) and the phospholamban (PLN) gene (P = 1.9×10−29). The most associated SNP near NOS1AP (rs12143842) e

  • Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders - Unknown journal (n.d.) · Unknown authors · PubMed 23583979

    ABSTRACT: Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rerio identified 20 genes at 11 loci that are relevant for heart rate regulation and highlight a role for genes involved in signal transmission, embryonic cardiac development and the pathophysiology of dilated cardiomyopathy, congenital heart failure and/or sudden cardiac death. In addition, genetic susceptibility to increased heart rate is associated with altered cardiac conduction and red

  • 52 Genetic Loci Influencing Myocardial Mass - Unknown journal (n.d.) · Unknown authors · PubMed 27659466

    ABSTRACT: BACKGROUND Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the electrocardiogram (ECG). Abnormal QRS amplitude or duration reflect changes in myocardial mass and conduction, and are associated with increased risk of heart failure and death. OBJECTIVES This meta-analysis sought to gain insights into the genetic determinants of myocardial mass. METHODS We carried out a genome-wide association meta-analysis of 4 QRS traits in up to 73,518 individuals of European ancestry, followed by extensive biological and functional assessment. RESULTS We identified 52 genomic loci, of which 32 are novel, that are reliably associated wit

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