Expressive

rs10791902 - RAD9A

Magnitude 2.2 · 5 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

  • Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline - Unknown journal (n.d.) · Unknown authors · PubMed 40374629

    ABSTRACT: Large-scale genomic studies focusing on the genetic contribution to human aging have mostly relied on cross-sectional data. With the release of longitudinally curated aging phenotypes by the UK Biobank (UKBB), it is now possible to study aging over time at genome-wide scale. In this work, we evaluated the suitability of competing models of change in realistic simulation settings, performed genome-wide association scans on simulation-validated measures of age-related deweekcline, and followed up with LD-score regression and Mendelian Randomization (MR) analyses. Focusing on global cognitive and physical function, we observed marked differences between baseline function (θ) and accelerated decline (Δ). Both outcomes showed distinct heritability levels (e.g., 31.38% versus 3.15%

  • Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study - Unknown journal (n.d.) · Unknown authors · PubMed 32376654

    ABSTRACT: Abstract Objective To evaluate whether body size in early life has an independent effect on risk of disease in later life or whether its influence is mediated by body size in adulthood. Design Two sample univariable and multivariable mendelian randomisation. Setting The UK Biobank prospective cohort study and four large scale genome-wide association studies (GWAS) consortiums. Participants 453 169 participants enrolled in UK Biobank and a combined total of more than 700 000 people from different GWAS consortiums. Exposures Measured body mass index during adulthood (mean age 56.5) and self-reported perceived body size at age 10. Main outcome measures Coronary artery disease, type 2 diabetes, breast cancer, and prostate cancer. Results Having a larger genetically predicted body

  • GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer - Unknown journal (n.d.) · Unknown authors · PubMed 34021172

    ABSTRACT: Genetic studies have examined body-shape measures adjusted for body mass index (BMI), while allometric indices are additionally adjusted for height. We performed the first genome-wide association study of A Body Shape Index (ABSI), Hip Index (HI) and the new Waist-to-Hip Index and compared these with traditional indices, using data from the UK Biobank Resource for 219,872 women and 186,825 men with white British ancestry and Bayesian linear mixed-models (BOLT-LMM). One to two thirds of the loci identified for allometric body-shape indices were novel. Most prominent was rs72959041 variant in RSPO3 gene, expressed in visceral adipose tissue and regulating adrenal cell renewal. Highly ranked were genes related to morphogenesis and organogenesis, previously additionally linked to can

  • A genetic map of human metabolism across the allele frequency spectrum - Unknown journal (n.d.) · Unknown authors · PubMed 41044249

    ABSTRACT: Genetic studies of human metabolism have been limited in scale and allelic breadth. Here we provide a data-driven map of the genetic regulation of circulating small molecules and lipoprotein characteristics (249 traits) measured using proton nuclear magnetic resonance spectroscopy across the allele frequency spectrum in ~450,000 individuals. Trans-ancestral meta-analyses identify 29,824 locus-metabolite associations mapping to 753 regions with effects largely consistent between men and women and large ancestral groups represented in UK Biobank. We observe and classify extreme genetic pleiotropy, identify regulators of lipid metabolism, and assign effector genes at >100 loci through rare-to-common allelic series. We propose roles for genes less established in metabolic control (

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