• Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants 

      Aragam, Krishna G.; Jiang, Tao; Goel, Anuj; Kanoni, Stavroula; Wolford, Brooke N.; Atri, Deepak S.; Weeks, Elle M.; Wang, Minxian; Hindy, George; Zhou, Wei; Grace, Christopher; Roselli, Carolina; Marston, Nicholas A.; Kamanu, Frederick K.; Surakka, Ida; Venegas, Loreto Muñoz; Sherliker, Paul; Koyama, Satoshi; Ishigaki, Kazuyoshi; Åsvold, Bjørn Olav; Brown, Michael R.; Brumpton, Ben Michael; de Vries, Paul S.; Giannakopoulou, Olga; Giardoglou, Panagiota; Gudbjartsson, Daniel F.; Güldener, Ulrich; Haider, Syed M. Ijlal; Helgadottir, Anna; Ibrahim, Maysson; Kastrati, Adnan; Kessler, Thorsten; Kyriakou, Theodosios; Konopka, Tomasz; Li, Ling; Ma, Lijiang; Meitinger, Thomas; Mucha, Sören; Munz, Matthias; Murgia, Federico; Nielsen, Jonas Bille; Nöthen, Markus M.; Pang, Shichao; Reinberger, Tobias; Schnitzler, Gavin; Smedley, Damian; Thorleifsson, Gudmar; von Scheidt, Moritz; Ulirsch, Jacob C.; Danesh, John; Arnar, David O.; Burtt, Noël P.; Costanzo, Maria C.; Flannick, Jason; Ito, Kaoru; Jang, Dong-Keun; Kamatani, Yoichiro; Khera, Amit V.; Komuro, Issei; Kullo, Iftikhar J.; Lotta, Luca A.; Nelson, Christopher P.; Roberts, Robert; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Webb, Thomas R.; Baras, Aris; Björkegren, Johan L. M.; Boerwinkle, Eric; Dedoussis, George; Holm, Hilma; Hveem, Kristian; Melander, Olle; Morrison, Alanna C.; Orho-Melander, Marju; Rallidis, Loukianos S.; Ruusalepp, Arno; Sabatine, Marc S.; Stefansson, Kari; Zalloua, Pierre; Ellinor, Patrick T.; Farrall, Martin; Danesh, John; Ruff, Christian T.; Finucane, Hilary K.; Hopewell, Jemma C.; Clarke, Robert; Gupta, Rajat M.; Erdmann, Jeanette; Samani, Nilesh J.; Schunkert, Heribert; Watkins, Hugh; Willer, Cristen J.; Deloukas, Panos; Kathiresan, Sekar; Butterworth, Adam S.; de Vries, Paul S.; von Scheidt, Moritz (Peer reviewed; Journal article, 2022)
      The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) ...
    • Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) 

      Knappskog, Stian; Gansmo, Liv Beathe; Dibirova, Khadizha; Metspalu, Andres; Cybulski, Cezary; Peterlongo, Paolo; Aaltonen, Lauri; Vatten, Lars Johan; Romundstad, Pål Richard; Hveem, Kristian; Devilee, Peter; Evans, Gareth D; Lin, Dongxin; Van Camp, Guy; Manolopoulos, Vangelis G; Osorio, Ana; Milani, Lili; Ozcelik, Tayfun; Zalloua, Pierre; Mouzaya, Francis; Bliznetz, Elena; Balanovska, Elena; Pocheshkova, Elvira; Kucinskas, Vaidutis; Atramentova, Lubov; Nymadawa, Pagbajabyn; Titov, Konstantin; Lavryashina, Maria; Yusupov, Yuldash; Bogdanova, Natalia; Koshel, Sergey; Zamora, Jorge; Wedge, David C.; Charlesworth, Deborah; Dörk, Thilo; Balanovsky, Oleg; Lønning, Per Eystein (Journal article; Peer reviewed, 2014)
      The MDM2 promoter SNP285C is located on the SNP309G allele. While SNP309G enhances Sp1 transcription factor binding and MDM2 transcription, SNP285C antagonizes Sp1 binding and reduces the risk of breast-, ovary- and ...