Expressive

rs10873298 - LINC02289, LINC01629

Magnitude 2.2 · 6 studies on file

Reported associations

  • Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases. - Nature genetics (2025) · Roselli C, Surakka I, Olesen MS, Sveinbjornsson G, Marston NA, Choi SH, Holm H, Chaffin M, Gudbjartsson D, Hill MC, Aegisdottir H, Albert CM, Alonso A, Anderson CD, Arking DE, Arnar DO, Barnard J, Benjamin EJ, Braunwald E, Brumpton B, Campbell A, Chami N, Chasman DI, Cho K, Choi EK, Christophersen IE, Chung MK, Conen D, Crijns HJ, Cutler MJ, Czuba T, Damrauer SM, Dichgans M, Dörr M, Dudink E, Duong T, Erikstrup C, Esko T, Fatkin D, Faul JD, Ferreira M, Freitag DF, Ganesh SK, Gaziano JM, Geelhoed B, Ghouse J, Gieger C, Giulianini F, Graham SE, Gudnason V, Guo X, Haggerty C, Hayward C, Heckbert SR, Hveem K, Ito K, Johnson R, Jukema JW, Jurgens SJ, Kääb S, Kane JP, Kany S, Kardia SLR, Kavousi M, Khurshid S, Kamanu FK, Kirchhof P, Kleber ME, Knight S, Komuro I, Krieger JE, Launer LJ, Li D, Lin H, Lin HJ, Loos RJF, Lotta L, Lubitz SA, Lunetta KL, Macfarlane PW, Magnusson PKE, Malik R, Mantineo H, Marcus GM, März W, McManus DD, Melander O, Melloni GEM, Meyre PB, Miyazawa K, Mohanty S, Monfort LM, Müller-Nurasyid M, Nafissi NA, Natale A, Nazarian S, Ostrowski SR, Pak HN, Pang S, Pedersen OB, Pedersen NL, Pereira AC, Pirruccello JP, Preuss M, Psaty BM, Pullinger CR, Rader DJ, Rämö JT, Ridker PM, Rienstra M, Risch L, Roden DM, Rotter JI, Sabatine MS, Schunkert H, Shah SH, Shim J, Shoemaker MB, Simonson B, Sinner MF, Smit RAJ, Smith JA, Smith NL, Smith JG, Soliman EZ, Sørensen E, Sotoodehnia N, Strbian D, Stricker BH, Teder-Laving M, Sun YV, Thériault S, Thorolfsdottir RB, Thorsteinsdottir U, Tveit A, van der Harst P, van Meurs J, Wang B, Weiss S, Wells QS, Weng LC, Wilson PW, Xiao L, Yang PS, Yao J, Yoneda ZT, Zeller T, Zeng L, Zhao W, Zhou X, Zöllner S, Ruff CT, Bundgaard H, Willer C, Stefansson K, Ellinor PT · PubMed 40050429

    Atrial fibrillation (AF) is the most common heart rhythm abnormality and is a leading cause of heart failure and stroke. This large-scale meta-analysis of genome-wide association studies increased the power to detect single-nucleotide variant associations and found more than 350 AF-associated genetic loci. We identified candidate genes related to muscle contractility, cardiac muscle development and cell-cell communication at 139 loci. Furthermore, we assayed chromatin accessibility using assay for transposase-accessible chromatin with sequencing and histone H3 lysine 4 trimethylation in stem cell-derived atrial cardiomyocytes. We observed a marked increase in chromatin accessibility for our sentinel variants and prioritized genes in atrial cardiomyocytes. Finally, a polygenic risk score (P

  • Biobank-driven genomic discovery yields new insight into atrial fibrillation biology - Unknown journal (n.d.) · Unknown authors · PubMed 30061737

    ABSTRACT: To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia, we performed a genome-wide association study of > 1,000,000 people, including 60,620 atrial fibrillation cases and 970,216 controls. We identified 142 independent risk variants at 111 loci and prioritized 151 functional candidate genes likely to be involved in atrial fibrillation. Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5), or near genes important for striated muscle function and integrity (for example, CFL2 MYH7, PKP2, RBM20, SGCG, SSPN). Pathway and functional enrichment analyses also suggested that many of the putative atrial fibrillation gene

  • Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation - Unknown journal (n.d.) · Unknown authors · PubMed 40645996

    ABSTRACT: Atrial fibrillation (AF) is a common cardiac arrhythmia with strong genetic components, yet its underlying molecular mechanisms and potential therapeutic targets remain incompletely understood. We conducted a cross-population genome-wide meta-analysis of 252,438 AF cases and identified 525 loci that met genome-wide significance. Two loci of PITX2 and ZFHX3 genes were identified as shared across populations of different ancestries. Comprehensive gene prioritization approaches reinforced the role of muscle development and heart contraction while also uncovering additional pathways, including cellular response to transforming growth factor-beta. Population-specific genetic correlations uncovered common and unique circulatory comorbidities between Europeans and Africans. Mendelian ra

  • Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction - Unknown journal (n.d.) · Unknown authors · PubMed 36653681

    ABSTRACT: Atrial fibrillation (AF) is a common cardiac arrhythmia resulting in increased risk of stroke. Despite highly heritable etiology, our understanding of the genetic architecture of AF remains incomplete. Here we performed a genome-wide association study in the Japanese population comprising 9,826 cases among 150,272 individuals and identified East Asian-specific rare variants associated with AF. A cross-ancestry meta-analysis of >1 million individuals, including 77,690 cases, identified 35 new susceptibility loci. Transcriptome-wide association analysis identified IL6R as a putative causal gene, suggesting the involvement of immune responses. Integrative analysis with ChIP-seq data and functional assessment using human induced pluripotent stem cell-derived cardiomyocytes demonstrat

  • A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype - Unknown journal (n.d.) · Unknown authors · PubMed 35872910

    ABSTRACT: Background Occult atrial fibrillation (AF) is one of the major causes of embolic stroke of undetermined source (ESUS). Knowing the underlying etiology of an ESUS will reduce stroke recurrence and/or unnecessary use of anticoagulants. Understanding cardioembolic strokes (CES), whose main cause is AF, will provide tools to select patients who would benefit from anticoagulants among those with ESUS or AF. We aimed to discover novel loci associated with CES and create a polygenetic risk score (PRS) for a more efficient CES risk stratification. Methods Multitrait analysis of GWAS (MTAG) was performed with MEGASTROKE-CES cohort (n = 362,661) and AF cohort (n = 1,030,836). We considered significant variants and replicated those variants with MTAG p-value < 5 × 10−8 influencing both t

  • Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits - Unknown journal (n.d.) · Unknown authors · PubMed 39537608

    ABSTRACT: Several cardiovascular traits and diseases co-occur with Alzheimer's disease. We mapped their shared genetic architecture using multi-trait genome-wide association studies. Subsequent fine-mapping and colocalisation highlighted 16 genetic loci associated with both Alzheimer's and cardiovascular diseases. We prioritised rs11786896, which colocalised with Alzheimer's disease, atrial fibrillation and expression of PLEC in the heart left ventricle, and rs7529220, which colocalised with Alzheimer's disease, atrial fibrillation and expression of C1Q family genes. Single-cell RNA-sequencing data, co-expression network and protein-protein interaction analyses provided evidence for different mechanisms of PLEC, which is upregulated in left ventricular endothelium and cardiomyocyte

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