rs12116645 - MDM4

Magnitude 2.0 · 2 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

• Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations - Cell (2021) · Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G · PubMed 32888493

  ABSTRACT: SUMMARY Most loci identified by GWAS have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EUR individuals, we identified 5,552 trait-variant associations at P<5×10−9, including 71 novel loci not found in EUR populations. We also identified 28 additional novel variants in ancestry-specific, non-EUR meta-analyses, including an IL7 missense variant in South Asians associated with lymphocyte count in vivo and IL7 secretion levels in vitro. Fine-mapping prioritized variants annotated as functional, and generated 95% credible sets that were 30% smaller when using the trans-ethnic as opposed to the EUR-only results. We explored the clinical significance and predictive value

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