157 results on '"Holmen, Oddgeir L."'
Search Results
2. Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
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Nielsen, Jonas B, Rom, Oren, Surakka, Ida, Graham, Sarah E, Zhou, Wei, Roychowdhury, Tanmoy, Fritsche, Lars G, Gagliano Taliun, Sarah A, Sidore, Carlo, Liu, Yuhao, Gabrielsen, Maiken E, Skogholt, Anne Heidi, Wolford, Brooke, Overton, William, Zhao, Ying, Chen, Jin, Zhang, He, Hornsby, Whitney E, Acheampong, Akua, Grooms, Austen, Schaefer, Amanda, Zajac, Gregory JM, Villacorta, Luis, Zhang, Jifeng, Brumpton, Ben, Løset, Mari, Rai, Vivek, Lundegaard, Pia R, Olesen, Morten S, Taylor, Kent D, Palmer, Nicholette D, Chen, Yii-Der, Choi, Seung H, Lubitz, Steven A, Ellinor, Patrick T, Barnes, Kathleen C, Daya, Michelle, Rafaels, Nicholas, Weiss, Scott T, Lasky-Su, Jessica, Tracy, Russell P, Vasan, Ramachandran S, Cupples, L Adrienne, Mathias, Rasika A, Yanek, Lisa R, Becker, Lewis C, Peyser, Patricia A, Bielak, Lawrence F, Smith, Jennifer A, Aslibekyan, Stella, Hidalgo, Bertha A, Arnett, Donna K, Irvin, Marguerite R, Wilson, James G, Musani, Solomon K, Correa, Adolfo, Rich, Stephen S, Guo, Xiuqing, Rotter, Jerome I, Konkle, Barbara A, Johnsen, Jill M, Ashley-Koch, Allison E, Telen, Marilyn J, Sheehan, Vivien A, Blangero, John, Curran, Joanne E, Peralta, Juan M, Montgomery, Courtney, Sheu, Wayne H-H, Chung, Ren-Hua, Schwander, Karen, Nouraie, Seyed M, Gordeuk, Victor R, Zhang, Yingze, Kooperberg, Charles, Reiner, Alexander P, Jackson, Rebecca D, Bleecker, Eugene R, Meyers, Deborah A, Li, Xingnan, Das, Sayantan, Yu, Ketian, LeFaive, Jonathon, Smith, Albert, Blackwell, Tom, Taliun, Daniel, Zollner, Sebastian, Forer, Lukas, Schoenherr, Sebastian, Fuchsberger, Christian, Pandit, Anita, Zawistowski, Matthew, Kheterpal, Sachin, Brummett, Chad M, Natarajan, Pradeep, Schlessinger, David, Lee, Seunggeun, Kang, Hyun Min, Cucca, Francesco, and Holmen, Oddgeir L
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Liver ,Humans ,Cardiovascular Diseases ,Lipids ,Receptors ,LDL ,Gene Targeting ,Gene Silencing ,Genome ,Human ,Biological Specimen Banks ,Genome-Wide Association Study ,Molecular Targeted Therapy ,United Kingdom ,Loss of Function Mutation ,Phenomics - Abstract
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide analyses of participants in the HUNT Study in Norway (n = 69,479) to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function. We identify 76 (11 previously unreported) presumed causal protein-altering variants associated with one or more CVD- or liver-related blood traits. Nine of the variants are predicted to result in loss-of-function of the protein. This includes ZNF529:p.K405X, which is associated with decreased low-density-lipoprotein (LDL) cholesterol (P = 1.3 × 10-8) without being associated with liver enzymes or non-fasting blood glucose. Silencing of ZNF529 in human hepatoma cells results in upregulation of LDL receptor and increased LDL uptake in the cells. This suggests that inhibition of ZNF529 or its gene product should be prioritized as a novel candidate drug target for treating dyslipidemia and associated CVD.
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- 2020
3. Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
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Ferreira, Manuel AR, Vonk, Judith M, Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D, Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, Lu, Yi, Grosche, Sarah, Rüschendorf, Franz, Granell, Raquel, Brumpton, Ben M, Fritsche, Lars G, Bhatta, Laxmi, Gabrielsen, Maiken E, Nielsen, Jonas B, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir L, Løset, Mari, Abecasis, Gonçalo R, Willer, Cristen J, Emami, Nima C, Cavazos, Taylor B, Witte, John S, Szwajda, Agnieszka, 23andMe Research Team, collaborators of the SHARE study, Hinds, David A, Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik Ke, Jorgenson, Eric, Karlsson, Robert, Paternoster, Lavinia, Boomsma, Dorret I, Almqvist, Catarina, Lee, Young-Ae, and Koppelman, Gerard H
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23andMe Research Team ,collaborators of the SHARE study ,Humans ,Asthma ,Eczema ,Age of Onset ,Polymorphism ,Single Nucleotide ,Adolescent ,Adult ,Aged ,Middle Aged ,Child ,Female ,Rhinitis ,Allergic ,Seasonal ,Male ,Genome-Wide Association Study ,Genetic Loci ,Polymorphism ,Single Nucleotide ,Rhinitis ,Allergic ,Seasonal ,Developmental Biology ,Genetics - Abstract
Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P
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- 2020
4. The HUNT study: A population-based cohort for genetic research
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Brumpton, Ben M., Graham, Sarah, Surakka, Ida, Skogholt, Anne Heidi, Løset, Mari, Fritsche, Lars G., Wolford, Brooke, Zhou, Wei, Nielsen, Jonas Bille, Holmen, Oddgeir L., Gabrielsen, Maiken E., Thomas, Laurent, Bhatta, Laxmi, Rasheed, Humaira, Zhang, He, Kang, Hyun Min, Hornsby, Whitney, Moksnes, Marta Riise, Coward, Eivind, Melbye, Mads, Giskeødegård, Guro F., Fenstad, Jørn, Krokstad, Steinar, Næss, Marit, Langhammer, Arnulf, Boehnke, Michael, Abecasis, Gonçalo R., Åsvold, Bjørn Olav, Hveem, Kristian, and Willer, Cristen J.
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- 2022
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5. Characterization of the genetic architecture of infant and early childhood body mass index
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Helgeland, Øyvind, Vaudel, Marc, Sole-Navais, Pol, Flatley, Christopher, Juodakis, Julius, Bacelis, Jonas, Koløen, Ingvild L., Knudsen, Gun Peggy, Johansson, Bente B., Magnus, Per, Kjennerud, Ted Reichborn, Juliusson, Petur B., Stoltenberg, Camilla, Holmen, Oddgeir L., Andreassen, Ole A., Jacobsson, Bo, Njølstad, Pål R., and Johansson, Stefan
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- 2022
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6. Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity
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Bakker, Mark K., Kanning, Jos P., Abraham, Gad, Martinsen, Amy E., Winsvold, Bendik S., Zwart, John-Anker, Bourcier, Romain, Sawada, Tomonobu, Koido, Masaru, Kamatani, Yoichiro, Morel, Sandrine, Amouyel, Philippe, Debette, Stéphanie, Bijlenga, Philippe, Berrandou, Takiy, Ganesh, Santhi K., Bouatia-Naji, Nabila, Jones, Gregory, Bown, Matthew, Rinkel, Gabriel J.E., Veldink, Jan H., Ruigrok, Ynte M., Hege Aamodt, Anne, Heidi Skogholt, Anne, Brumpton, Ben M, Willer, Cristen J, Sandset, Else C, Kristoffersen, Espen S, Ellekjær, Hanne, Heuch, Ingrid, Nielsen, Jonas B, Hagen, Knut, Hveem, Kristian, Fritsche, Lars G, Thomas, Laurent F, Pedersen, Linda M, Gabrielsen, Maiken E, Holmen, Oddgeir L, Børte, Sigrid, Zhou, Wei, Abboud, Shérine, Pandolfo, Massimo, Thijs, Vincent, Leys, Didier, Bodenant, Marie, Louillet, Fabien, Touzé, Emmanuel, Mas, Jean-Louis, Samson, Yves, Leder, Sara, Léger, Anne, Deltour, Sandrine, Crozier, Sophie, Méresse, Isabelle, Canaple, Sandrine, Godefroy, Olivier, Giroud, Maurice, Béjot, Yannick, Decavel, Pierre, Medeiros, Elizabeth, Montiel, Paola, Moulin, Thierry, Vuillier, Fabrice, Dallongeville, Jean, Metso, Antti J, Metso, Tiina, Tatlisumak, Turgut, Grond-Ginsbach, Caspar, Lichy, Christoph, Kloss, Manja, Werner, Inge, Arnold, Marie-Luise, Dos Santos, Michael, Grau, Armin, Dichgans, Martin, Thomas-Feles, Constanze, Weber, Ralf, Brandt, Tobias, Pezzini, Alessandro, De Giuli, Valeria, Caria, Filomena, Poli, Loris, Padovani, Alessandro, Bersano, Anna, Lanfranconi, Silvia, Beretta, Simone, Ferrarese, Carlo, Giacolone, Giacomo, Paolucci, Stefano, Lyrer, Philippe, Engelter, Stefan, Fluri, Felix, Hatz, Florian, Gisler, Dominique, Bonati, Leo, Gensicke, Henrik, Amort, Margareth, Markus, Hugh, Majersik, Jennifer, Worrall, Bradford, Southerland, Andrew, Cole, John, Kittner, Steven, Evangelou, Evangelos, Warren, Helen R, Gao, He, Ntritsos, Georgios, Dimou, Niki, Esko, Tonu, Mägi, Reedik, Milani, Lili, Almgren, Peter, Boutin, Thibaud, Ding, Jun, Giulianini, Franco, Holliday, Elizabeth G, Jackson, Anne U, Li-Gao, Ruifang, Lin, Wei-Yu, Luan, Jian’an, Mangino, Massimo, Oldmeadow, Christopher, Peter Prins, Bram, Qian, Yong, Sargurupremraj, Muralidharan, Shah, Nabi, Surendran, Praveen, Thériault, Sébastien, Verweij, Niek, Willems, Sara M, Zhao, Jing-Hua, Connell, John, de Mutsert, Renée, Doney, Alex SF, Farrall, Martin, Menni, Cristina, Morris, Andrew D, Noordam, Raymond, Paré, Guillaume, Poulter, Neil R, Shields, Denis C, Stanton, Alice, Thom, Simon, Abecasis, Gonçalo, Amin, Najaf, Arking, Dan E, Ayers, Kristin L, Barbieri, Caterina M, Batini, Chiara, Bis, Joshua C, Blake, Tineka, Bochud, Murielle, Boehnke, Michael, Boerwinkle, Eric, Boomsma, Dorret I, Bottinger, Erwin P, Braund, Peter S, Brumat, Marco, Campbell, Archie, Campbell, Harry, Chakravarti, Aravinda, Chambers, John C, Chauhan, Ganesh, Ciullo, Marina, Cocca, Massimiliano, Collins, Francis, Cordell, Heather J, Davies, Gail, de Borst, Martin H, de Geus, Eco J, Deary, Ian J, Deelen, Joris, Del Greco M, Fabiola, Yusuf Demirkale, Cumhur, Dörr, Marcus, Ehret, Georg B, Elosua, Roberto, Enroth, Stefan, Mesut Erzurumluoglu, A, Ferreira, Teresa, Frånberg, Mattias, Franco, Oscar H, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Goel, Anuj, Gow, Alan J, Gudnason, Vilmundur, Guo, Xiuqing, Gyllensten, Ulf, Hamsten, Anders, Harris, Tamara B, Harris, Sarah E, Hartman, Catharina A, Havulinna, Aki S, Hicks, Andrew A, Hofer, Edith, Hofman, Albert, Hottenga, Jouke-Jan, Huffman, Jennifer E, Hwang, Shih-Jen, Ingelsson, Erik, James, Alan, Jansen, Rick, Jarvelin, Marjo-Riitta, Joehanes, Roby, Johansson, Åsa, Johnson, Andrew D, Joshi, Peter K, Jousilahti, Pekka, Wouter Jukema, J, Jula, Antti, Kähönen, Mika, Kathiresan, Sekar, Keavney, Bernard D, Khaw, Kay-Tee, Knekt, Paul, Knight, Joanne, Kolcic, Ivana, Kooner, Jaspal S, Koskinen, Seppo, Kristiansson, Kati, Kutalik, Zoltan, Laan, Maris, Larson, Marty, Launer, Lenore J, Lehne, Benjamin, Lehtimäki, Terho, Liewald, David CM, Lin, Li, Lind, Lars, Lindgren, Cecilia M, Liu, YongMei, Loos, Ruth JF, Lopez, Lorna M, Lu, Yingchang, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamasoula, Chrysovalanto, Marrugat, Jaume, Marten, Jonathan, Milaneschi, Yuri, Morgan, Anna, Morris, Andrew P, Morrison, Alanna C, Munson, Peter J, Nalls, Mike A, Nandakumar, Priyanka, Nelson, Christopher P, Niiranen, Teemu, Nolte, Ilja M, Nutile, Teresa, Oldehinkel, Albertine J, Oostra, Ben A, O’Reilly, Paul F, Org, Elin, Padmanabhan, Sandosh, Palmas, Walter, Palotie, Aarno, Pattie, Alison, WJH Penninx, Brenda, Perola, Markus, Peters, Annette, Polasek, Ozren, Pramstaller, Peter P, Tri Nguyen, Quang, Raitakari, Olli T, Rettig, Rainer, Rice, Kenneth, Ridker, Paul M, Ried, Janina S, Riese, Harriëtte, Ripatti, Samuli, Robino, Antonietta, Rose, Lynda M, Rotter, Jerome I, Rudan, Igor, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia F, Salomaa, Veikko, Samani, Nilesh J, Sarin, Antti-Pekka, Schmidt, Reinhold, Schmidt, Helena, Shrine, Nick, Siscovick, David, Smith, Albert V, Snieder, Harold, Sõber, Siim, Sorice, Rossella, Starr, John M, Stott, David J, Strachan, David P, Strawbridge, Rona J, Sundström, Johan, Swertz, Morris A, Taylor, Kent D, Teumer, Alexander, Tobin, Martin D, Tomaszewski, Maciej, Toniolo, Daniela, Traglia, Michela, Trompet, Stella, Tuomilehto, Jaakko, Tzourio, Christophe, Uitterlinden, André G, Vaez, Ahmad, van der Most, Peter J, van Duijn, Cornelia M, Verwoert, Germaine C, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Vuckovic, Dragana, Watkins, Hugh, Wild, Sarah H, Willemsen, Gonneke, Wilson, James F, Wright, Alan F, Yao, Jie, Zemunik, Tatijana, Zhang, Weihua, Attia, John R, Butterworth, Adam S, Chasman, Daniel I, Conen, David, Cucca, Francesco, Danesh, John, Hayward, Caroline, Howson, Joanna MM, Laakso, Markku, Lakatta, Edward G, Langenberg, Claudia, Melander, Olle, Mook-Kanamori, Dennis O, Palmer, Colin NA, Risch, Lorenz, Scott, Robert A, Scott, Rodney J, Sever, Peter, Spector, Tim D, van der Harst, Pim, Wareham, Nicholas J, Zeggini, Eleftheria, Levy, Daniel, Munroe, Patricia B, Newton-Cheh, Christopher, Brown, Morris J, Metspalu, Andres, Psaty, Bruce M., Wain, Louise V, Elliott, Paul, Caulfield, Mark J, Gormley, Padhraig, Anttila, Verneri, Palta, Priit, Esko, Tonu, Pers, Tune H, Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H H, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Gudlaug Hrafnsdottir, Maria, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda W J H, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M, Stubhaug, Audun, Nielsen, Christopher S, Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Francke Christensen, Anne, Folkmann Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Arfan Ikram, M, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M J M, Boomsma, Dorret I, Davey Smith, George, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Palotie, Aarno, Akiyama, Masato, Alg, Varinder S., Børte, Sigrid, Broderick, Joseph P., Brumpton, Ben M., Dauvillier, Jérôme, Desal, Hubert, Dina, Christian, Friedrich, Christoph M., Gaál-Paavola, Emília I., Gentric, Jean-Christophe, Hirsch, Sven, Hostettler, Isabel C., Houlden, Henry, Hveem, Kristian, Jääskeläinen, Juha E., Johnsen, Marianne Bakke, Li, Liming, Lin, Kuang, Lindgren, Antti, Martin, Olivier, Matsuda, Koichi, Millwood, Iona Y., Naggara, Olivier, Niemelä, Mika, Pera, Joanna, Redon, Richard, Rouleau, Guy A., Sandvei, Marie Søfteland, Schilling, Sabine, Shotar, Eimad, Slowik, Agnieszka, Terao, Chikashi, Verschuren, W. M. Monique, Walters, Robin G., Werring, David J., Willer, Cristen J., Woo, Daniel, Worrall, Bradford B., and Zhou, Sirui
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- 2023
- Full Text
- View/download PDF
7. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
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Gusarova, Viktoria, O’Dushlaine, Colm, Teslovich, Tanya M, Benotti, Peter N, Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V, Murray, Michael F, Mahajan, Anubha, Nielsen, Jonas B, Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F, Sjögren, Marketa, Emdin, Connor A, Scott, Robert A, Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C, Dwivedi, Om Prakash, Prasad, Rashmi B, Bruse, Shannon, Lopez, Alexander E, Penn, John, Marcketta, Anthony, Leader, Joseph B, Still, Christopher D, Kirchner, H Lester, Mirshahi, Uyenlinh L, Wardeh, Amr H, Hartle, Cassandra M, Habegger, Lukas, Fetterolf, Samantha N, Tusie-Luna, Teresa, Morris, Andrew P, Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I, Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M, Khera, Amit V, Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A, Willer, Cristen J, Holmen, Oddgeir L, Ritchie, Marylyn D, Ledbetter, David H, Murphy, Andrew J, Borecki, Ingrid B, Reid, Jeffrey G, Overton, John D, Hansson, Ola, Groop, Leif, Shah, Svati H, Kraus, William E, Rader, Daniel J, Chen, Yii-Der I, Hveem, Kristian, Wareham, Nicholas J, Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G, Tybjærg-Hansen, Anne, Abecasis, Goncalo R, Altshuler, David, Florez, Jose C, Boehnke, Michael, McCarthy, Mark I, Yancopoulos, George D, Carey, David J, Shuldiner, Alan R, Baras, Aris, Dewey, Frederick E, and Gromada, Jesper
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Diabetes ,Atherosclerosis ,Cardiovascular ,Metabolic and endocrine ,Amino Acid Substitution ,Angiopoietin-Like Protein 4 ,Animals ,Blood Glucose ,Case-Control Studies ,Diabetes Mellitus ,Type 2 ,Female ,Gene Silencing ,Genetic Association Studies ,Genetic Variation ,Heterozygote ,Homeostasis ,Humans ,Insulin Resistance ,Lipoprotein Lipase ,Male ,Mice ,Mice ,Inbred C57BL ,Mice ,Knockout ,Risk Factors ,Exome Sequencing - Abstract
Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decrease risk of type 2 diabetes (T2D). We investigate protein-altering variants in ANGPTL4 among 58,124 participants in the DiscovEHR human genetics study, with follow-up studies in 82,766 T2D cases and 498,761 controls. Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0.89, 95% confidence interval 0.85-0.92, p = 6.3 × 10-10), lower fasting glucose, and greater insulin sensitivity. Predicted loss-of-function variants are associated with lower odds of T2D among 32,015 cases and 84,006 controls (odds ratio 0.71, 95% confidence interval 0.49-0.99, p = 0.041). Functional studies in Angptl4-deficient mice confirm improved insulin sensitivity and glucose homeostasis. In conclusion, genetic inactivation of ANGPTL4 is associated with improved glucose homeostasis and reduced risk of T2D.
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- 2018
8. Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
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Ferreira, Manuel A, Vonk, Judith M, Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D, Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, van Dongen, Jenny, Lu, Yi, Rüschendorf, Franz, Esparza-Gordillo, Jorge, Medway, Chris W, Mountjoy, Edward, Burrows, Kimberley, Hummel, Oliver, Grosche, Sarah, Brumpton, Ben M, Witte, John S, Hottenga, Jouke-Jan, Willemsen, Gonneke, Zheng, Jie, Rodríguez, Elke, Hotze, Melanie, Franke, Andre, Revez, Joana A, Beesley, Jonathan, Matheson, Melanie C, Dharmage, Shyamali C, Bain, Lisa M, Fritsche, Lars G, Gabrielsen, Maiken E, Balliu, Brunilda, Nielsen, Jonas B, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir L, Løset, Mari, Abecasis, Gonçalo R, Willer, Cristen J, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O, Thompson, Philip J, Martin, Nicholas G, Duffy, David L, Novak, Natalija, Schulz, Holger, Karrasch, Stefan, Gieger, Christian, Strauch, Konstantin, Melles, Ronald B, Hinds, David A, Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik KE, Jansen, Rick, Jorgenson, Eric, Lee, Young-Ae, Boomsma, Dorret I, Almqvist, Catarina, Karlsson, Robert, Koppelman, Gerard H, and Paternoster, Lavinia
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Biological Sciences ,Genetics ,Emerging Infectious Diseases ,Lung ,Prevention ,Asthma ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Inflammatory and immune system ,Good Health and Well Being ,Eczema ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Hypersensitivity ,Phenotype ,Polymorphism ,Single Nucleotide ,Rhinitis ,Allergic ,Seasonal ,Risk Factors ,23andMe Research Team ,AAGC collaborators ,BIOS consortium ,LifeLines Cohort Study ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P < 3 × 10-8), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology. Disease-specific effects were detected for only six variants, confirming that most represent shared risk factors. Tissue-specific heritability and biological process enrichment analyses suggest that shared risk variants influence lymphocyte-mediated immunity. Six target genes provide an opportunity for drug repositioning, while for 36 genes CpG methylation was found to influence transcription independently of genetic effects. Asthma, hay fever and eczema partly coexist because they share many genetic risk variants that dysregulate the expression of immune-related genes.
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- 2017
9. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
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Gaulton, Kyle J, Ferreira, Teresa, Lee, Yeji, Raimondo, Anne, Mägi, Reedik, Reschen, Michael E, Mahajan, Anubha, Locke, Adam, William Rayner, N, Robertson, Neil, Scott, Robert A, Prokopenko, Inga, Scott, Laura J, Green, Todd, Sparso, Thomas, Thuillier, Dorothee, Yengo, Loic, Grallert, Harald, Wahl, Simone, Frånberg, Mattias, Strawbridge, Rona J, Kestler, Hans, Chheda, Himanshu, Eisele, Lewin, Gustafsson, Stefan, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Qi, Lu, Karssen, Lennart C, van Leeuwen, Elisabeth M, Willems, Sara M, Li, Man, Chen, Han, Fuchsberger, Christian, Kwan, Phoenix, Ma, Clement, Linderman, Michael, Lu, Yingchang, Thomsen, Soren K, Rundle, Jana K, Beer, Nicola L, van de Bunt, Martijn, Chalisey, Anil, Kang, Hyun Min, Voight, Benjamin F, Abecasis, Gonçalo R, Almgren, Peter, Baldassarre, Damiano, Balkau, Beverley, Benediktsson, Rafn, Blüher, Matthias, Boeing, Heiner, Bonnycastle, Lori L, Bottinger, Erwin P, Burtt, Noël P, Carey, Jason, Charpentier, Guillaume, Chines, Peter S, Cornelis, Marilyn C, Couper, David J, Crenshaw, Andrew T, van Dam, Rob M, Doney, Alex SF, Dorkhan, Mozhgan, Edkins, Sarah, Eriksson, Johan G, Esko, Tonu, Eury, Elodie, Fadista, João, Flannick, Jason, Fontanillas, Pierre, Fox, Caroline, Franks, Paul W, Gertow, Karl, Gieger, Christian, Gigante, Bruna, Gottesman, Omri, Grant, George B, Grarup, Niels, Groves, Christopher J, Hassinen, Maija, Have, Christian T, Herder, Christian, Holmen, Oddgeir L, Hreidarsson, Astradur B, Humphries, Steve E, Hunter, David J, Jackson, Anne U, Jonsson, Anna, Jørgensen, Marit E, Jørgensen, Torben, Kao, Wen-Hong L, Kerrison, Nicola D, Kinnunen, Leena, Klopp, Norman, Kong, Augustine, Kovacs, Peter, Kraft, Peter, Kravic, Jasmina, and Langford, Cordelia
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Biological Sciences ,Genetics ,Liver Disease ,Diabetes ,Human Genome ,Digestive Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Metabolic and endocrine ,Binding Sites ,Case-Control Studies ,Chromatin Immunoprecipitation ,Chromosome Mapping ,Diabetes Mellitus ,Type 2 ,Gene Expression Regulation ,Genetic Loci ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genomics ,Hepatocyte Nuclear Factor 3-beta ,Humans ,Islets of Langerhans ,Liver ,Molecular Sequence Annotation ,Polymorphism ,Single Nucleotide ,Receptor ,Melatonin ,MT2 ,DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
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- 2015
10. Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
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Lange, Leslie A, Hu, Youna, Zhang, He, Xue, Chenyi, Schmidt, Ellen M, Tang, Zheng-Zheng, Bizon, Chris, Lange, Ethan M, Smith, Joshua D, Turner, Emily H, Jun, Goo, Kang, Hyun Min, Peloso, Gina, Auer, Paul, Li, Kuo-ping, Flannick, Jason, Zhang, Ji, Fuchsberger, Christian, Gaulton, Kyle, Lindgren, Cecilia, Locke, Adam, Manning, Alisa, Sim, Xueling, Rivas, Manuel A, Holmen, Oddgeir L, Gottesman, Omri, Lu, Yingchang, Ruderfer, Douglas, Stahl, Eli A, Duan, Qing, Li, Yun, Durda, Peter, Jiao, Shuo, Isaacs, Aaron, Hofman, Albert, Bis, Joshua C, Correa, Adolfo, Griswold, Michael E, Jakobsdottir, Johanna, Smith, Albert V, Schreiner, Pamela J, Feitosa, Mary F, Zhang, Qunyuan, Huffman, Jennifer E, Crosby, Jacy, Wassel, Christina L, Do, Ron, Franceschini, Nora, Martin, Lisa W, Robinson, Jennifer G, Assimes, Themistocles L, Crosslin, David R, Rosenthal, Elisabeth A, Tsai, Michael, Rieder, Mark J, Farlow, Deborah N, Folsom, Aaron R, Lumley, Thomas, Fox, Ervin R, Carlson, Christopher S, Peters, Ulrike, Jackson, Rebecca D, van Duijn, Cornelia M, Uitterlinden, André G, Levy, Daniel, Rotter, Jerome I, Taylor, Herman A, Gudnason, Vilmundur, Siscovick, David S, Fornage, Myriam, Borecki, Ingrid B, Hayward, Caroline, Rudan, Igor, Chen, Y Eugene, Bottinger, Erwin P, Loos, Ruth JF, Sætrom, Pål, Hveem, Kristian, Boehnke, Michael, Groop, Leif, McCarthy, Mark, Meitinger, Thomas, Ballantyne, Christie M, Gabriel, Stacey B, O’Donnell, Christopher J, Post, Wendy S, North, Kari E, Reiner, Alexander P, Boerwinkle, Eric, Psaty, Bruce M, Altshuler, David, Kathiresan, Sekar, Lin, Dan-Yu, Jarvik, Gail P, Cupples, L Adrienne, Kooperberg, Charles, Wilson, James G, Nickerson, Deborah A, Abecasis, Goncalo R, and Rich, Stephen S
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Epidemiology ,Biological Sciences ,Health Sciences ,Genetics ,Human Genome ,Prevention ,Clinical Research ,Heart Disease ,Cardiovascular ,Atherosclerosis ,Aetiology ,2.1 Biological and endogenous factors ,Adult ,Aged ,Apolipoproteins E ,Cholesterol ,LDL ,Cohort Studies ,Dyslipidemias ,Exome ,Female ,Follow-Up Studies ,Gene Frequency ,Genetic Code ,Genome-Wide Association Study ,Genotype ,Humans ,Lipase ,Male ,Middle Aged ,Phenotype ,Polymorphism ,Single Nucleotide ,Proprotein Convertase 9 ,Proprotein Convertases ,Receptors ,LDL ,Sequence Analysis ,DNA ,Serine Endopeptidases ,NHLBI Grand Opportunity Exome Sequencing Project ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or
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- 2014
11. Relative Prognostic Value of Cardiac Troponin I and C-Reactive Protein in the General Population (from the Nord-Trøndelag Health [HUNT] Study)
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Sigurdardottir, Fjola D., Lyngbakken, Magnus N., Holmen, Oddgeir L., Dalen, Håvard, Hveem, Kristian, Røsjø, Helge, and Omland, Torbjørn
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- 2018
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12. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
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Justice, Anne E., Karaderi, Tugce, Highland, Heather M., Young, Kristin L., Graff, Mariaelisa, Lu, Yingchang, Turcot, Valérie, Auer, Paul L., Fine, Rebecca S., Guo, Xiuqing, Schurmann, Claudia, Lempradl, Adelheid, Marouli, Eirini, Mahajan, Anubha, Winkler, Thomas W., Locke, Adam E., Medina-Gomez, Carolina, Esko, Tõnu, Vedantam, Sailaja, Giri, Ayush, Lo, Ken Sin, Alfred, Tamuno, Mudgal, Poorva, Ng, Maggie C. Y., Heard-Costa, Nancy L., Feitosa, Mary F., Manning, Alisa K., Willems, Sara M., Sivapalaratnam, Suthesh, Abecasis, Goncalo, Alam, Dewan S., Allison, Matthew, Amouyel, Philippe, Arzumanyan, Zorayr, Balkau, Beverley, Bastarache, Lisa, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Broer, Linda, Burt, Amber A., Butterworth, Adam S., Caulfield, Mark J., Cesana, Giancarlo, Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Collins, Francis S., Cook, James P., Cox, Amanda J., Crosslin, David S., Danesh, John, de Bakker, Paul I. W., Denus, Simon de, Mutsert, Renée de, Dedoussis, George, Demerath, Ellen W., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Dörr, Marcus, Drenos, Fotios, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Fornage, Myriam, Fox, Caroline S., Franks, Paul W., Friedrich, Nele, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Girotto, Giorgia, Gorski, Mathias, Grallert, Harald, Grarup, Niels, Grove, Megan L., Gustafsson, Stefan, Haessler, Jeff, Hansen, Torben, Hattersley, Andrew T., Hayward, Caroline, Heid, Iris M., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Hung, Yi-Jen, Hveem, Kristian, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jarvik, Gail P., Jia, Yucheng, Jørgensen, Torben, Jousilahti, Pekka, Justesen, Johanne M., Kahali, Bratati, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kee, Frank, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kovacs, Peter, Krämer, Bernhard K., Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lee, Wen-Jane, Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Luan, Jian’an, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mägi, Reedik, Männistö, Satu, Marenne, Gaëlle, Marten, Jonathan, Masca, Nicholas G. D., McCarthy, Mark I., Meidtner, Karina, Mihailov, Evelin, Moilanen, Leena, Moitry, Marie, Mook-Kanamori, Dennis O., Morgan, Anna, Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Ntalla, Ioanna, O’Connell, Jeffrey R., Owen, Katharine R., Pedersen, Oluf, Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Ewing, Ailith, Polasek, Ozren, Raitakari, Olli T., Rasheed, Asif, Raulerson, Chelsea K., Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Ridker, Paul M., Rivas, Manuel A., Robertson, Neil R., Robino, Antonietta, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo, Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Blair H., Smith, Jennifer A., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swart, Karin M. A., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Torres, Mina, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van Duijn, Cornelia M., Vanhala, Mauno, Varma, Rohit, Vermeulen, Sita H., Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zheng, He, Zhou, Wei, Zillikens, M. Carola, Rivadeneira, Fernando, Borecki, Ingrid B., Pospisilik, J. Andrew, Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, Mohlke, Karen L., Rotter, Jerome I., Kutalik, Zoltán, Hirschhorn, Joel N., Cupples, L. Adrienne, Loos, Ruth J. F., North, Kari E., and Lindgren, Cecilia M.
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- 2019
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13. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
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Nielsen, Jonas B., Thorolfsdottir, Rosa B., Fritsche, Lars G., Zhou, Wei, Skov, Morten W., Graham, Sarah E., Herron, Todd J., McCarthy, Shane, Schmidt, Ellen M., Sveinbjornsson, Gardar, Surakka, Ida, Mathis, Michael R., Yamazaki, Masatoshi, Crawford, Ryan D., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Holmen, Oddgeir L., Lin, Maoxuan, Wolford, Brooke N., Dey, Rounak, Dalen, Håvard, Sulem, Patrick, Chung, Jonathan H., Backman, Joshua D., Arnar, David O., Thorsteinsdottir, Unnur, Baras, Aris, O’Dushlaine, Colm, Holst, Anders G., Wen, Xiaoquan, Hornsby, Whitney, Dewey, Frederick E., Boehnke, Michael, Kheterpal, Sachin, Mukherjee, Bhramar, Lee, Seunggeun, Kang, Hyun M., Holm, Hilma, Kitzman, Jacob, Shavit, Jordan A., Jalife, José, Brummett, Chad M., Teslovich, Tanya M., Carey, David J., Gudbjartsson, Daniel F., Stefansson, Kari, Abecasis, Gonçalo R., Hveem, Kristian, and Willer, Cristen J.
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- 2018
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14. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
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Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.
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- 2018
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15. Gender, High-Sensitivity Troponin I, and the Risk of Cardiovascular Events (from the Nord-Trøndelag Health Study)
- Author
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Lyngbakken, Magnus Nakrem, Røsjø, Helge, Holmen, Oddgeir L., Nygård, Ståle, Dalen, Håvard, Hveem, Kristian, and Omland, Torbjørn
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- 2016
- Full Text
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16. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- Author
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Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Loohuis, Loes M. Olde, Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Edwards, Digna R. Velez, Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators, Understanding Society Scientific Group, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.
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- 2019
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17. Abstract 16343: Cardiac Troponin I Provides Superior Prognostic Information to C-Reactive Protein in the General Population: Data From The Nord-Trøndelag Health Study
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Sigurdardottir, Fjola D, Lyngbakken, Magnus N, Holmen, Oddgeir L, Dalen, Håvard, Hveem, Kristian, Røsjø, Helge, and Omland, Torbjørn
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- 2017
18. Abstract 16340: Association Between Smokeless Tobacco Use and Circulating Concentrations of Cardiac Troponin I in the General Population: The Hunt Study (Nord-Trøndelag Health Study)
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Skranes, Julia B, Lyngbakken, Magnus N, Nygård, Ståle, Dalen, Håvard, Holmen, Oddgeir L, Hveem, Kristian, Røsjø, Helge, and Omland, Torbjørn
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- 2017
19. Abstract 14527: Temporal Changes in Cardiac Troponin I and Risk ofCardiovascular Events in the General Population: The Nord-Trøndelag Health Study
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Lyngbakken, Magnus N, Røsjø, Helge, Holmen, Oddgeir L, Dalen, Håvard, Hveem, Kristian, and Omland, Torbjørn
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- 2017
20. Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation
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Thorolfsdottir, Rosa B., Sveinbjornsson, Gardar, Sulem, Patrick, Nielsen, Jonas B., Jonsson, Stefan, Halldorsson, Gisli H., Melsted, Pall, Ivarsdottir, Erna V., Davidsson, Olafur B., Kristjansson, Ragnar P., Thorleifsson, Gudmar, Helgadottir, Anna, Gretarsdottir, Solveig, Norddahl, Gudmundur, Rajamani, Sridharan, Torfason, Bjarni, Valgardsson, Atli S., Sverrisson, Jon T., Tragante, Vinicius, Holmen, Oddgeir L., Asselbergs, Folkert W., Roden, Dan M., Darbar, Dawood, Pedersen, Terje R., Sabatine, Marc S., Willer, Cristen J., Løchen, Maja-Lisa, Halldorsson, Bjarni V., Jonsdottir, Ingileif, Hveem, Kristian, Arnar, David O., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Holm, Hilma, and Stefansson, Kari
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- 2018
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21. Supplement to: Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators. Coding variation in ANGPTL4, LPL, and SVEP1 and the risk of coronary disease.
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Stitziel, Nathan O., Stirrups, Kathleen E., Masca, Nicholas G.D., Erdmann, Jeanette, Ferrario, Paola G., König, Inke R., Weeke, Peter E., Webb, Thomas R., Auer, Paul L., Schick, Ursula M., Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M., Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kanoni, Stavroula, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A., Willenborg, Christina, Braund, Peter S., van Capelleveen, Julian C., Doney, Alex S.F., Donnelly, Louise A., Asselta, Rosanna, Merlini, Piera A., Duga, Stefano, Marziliano, Nicola, Denny, Josh C., Shaffer, Christian M., El-Mokhtari, Nour Eddine, Franke, Andre, Gottesman, Omri, Heilmann, Stefanie, Hengstenberg, Christian, Hoffmann, Per, Holmen, Oddgeir L., Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L., Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I., Van Zuydam, Natalie R., Meisinger, Christa, Esko, Tõnu, Mihailov, Evelin, Escher, Stefan A., Alver, Maris, Moebus, Susanne, Morris, Andrew D., Müller-Nurasyid, Martina, Nikpay, Majid, Olivieri, Oliviero, Perreault, Louis-Philippe Lemieux, AlQarawi, Alaa, Robertson, Neil R., Akinsanya, Karen O., Reilly, Dermot F., Vogt, Thomas F., Yin, Wu, Asselbergs, Folkert W., Kooperberg, Charles, Jackson, Rebecca D., Stahl, Eli, Strauch, Konstantin, Varga, Tibor V., Waldenberger, Melanie, Zeng, Lingyao, Kraja, Aldi T., Liu, Chunyu, Ehret, Georg B., Newton-Cheh, Christopher, Chasman, Daniel I., Chowdhury, Rajiv, Ferrario, Marco, Ford, Ian, Jukema, Wouter J., Kee, Frank, Kuulasmaa, Kari, Nordestgaard, Børge G., Perola, Markus, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Tregouet, David, Young, Robin, M. Howson, Joanna M., Butterworth, Adam S., Danesh, John, Ardissino, Diego, Bottinger, Erwin P., Erbel, Raimund, Franks, Paul W., Girelli, Domenico, Hall, Alistair S., Hovingh, Kees G., Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E., Shah, Svati H., McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin N.A., Peters, Annette, Rader, Daniel J., Reilly, Muredach P., Loos, Ruth J.F., Reiner, Alex P., Roden, Dan M., Tardif, Jean-Claude, Thompson, John R., Wareham, Nicholas J., Watkins, Hugh, Willer, Cristen J., Kathiresan, Sekar, Deloukas, Panos, Samani, Nilesh J, and Schunkert, Heribert
- Published
- 2016
22. Rare and low-frequency coding variants alter human adult height
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Marouli, Eirini, Graff, Mariaelisa, Medina-Gomez, Carolina, Lo, Ken Sin, Wood, Andrew R., Kjaer, Troels R., Fine, Rebecca S., Lu, Yingchang, Schurmann, Claudia, Highland, Heather M., Rüeger, Sina, Thorleifsson, Gudmar, Justice, Anne E., Lamparter, David, Stirrups, Kathleen E., Turcot, Valérie, Young, Kristin L., Winkler, Thomas W., Esko, Tõnu, Karaderi, Tugce, Locke, Adam E., Masca, Nicholas G. D., Ng, Maggie C. Y., Mudgal, Poorva, Rivas, Manuel A., Vedantam, Sailaja, Mahajan, Anubha, Guo, Xiuqing, Abecasis, Goncalo, Aben, Katja K., Adair, Linda S., Alam, Dewan S., Albrecht, Eva, Allin, Kristine H., Allison, Matthew, Amouyel, Philippe, Appel, Emil V., Arveiler, Dominique, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Banas, Bernhard, Bang, Lia E., Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bonnycastle, Lori L., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Burt, Amber A., Butterworth, Adam S., Carey, David J., Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Cuellar-Partida, Gabriel, Danesh, John, Davies, Gail, de Bakker, Paul I. W., de Borst, Gert J., de Denus, Simon, de Groot, Mark C. H., de Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., den Hollander, Anneke I., Dennis, Joe G., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dunning, Alison M., Easton, Douglas F., Ebeling, Tapani, Edwards, Todd L., Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Faul, Jessica D., Feitosa, Mary F., Feng, Shuang, Ferrannini, Ele, Ferrario, Marco M., Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franks, Paul W., Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Giri, Ayush, Girotto, Giorgia, Gordon, Scott D., Gordon-Larsen, Penny, Gorski, Mathias, Grarup, Niels, Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Hayward, Caroline, He, Liang, Heid, Iris M., Heikkilä, Kauko, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L., Hovingh, Kees G., Howson, Joanna M. M., Hoyng, Carel B., Huang, Paul L., Hveem, Kristian, Ikram, Arfan M., Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jhun, Min A., Jia, Yucheng, Jiang, Xuejuan, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jousilahti, Pekka, Jukema, Wouter J., Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kee, Frank, Keeman, Renske, Kiemeney, Lambertus A., Kitajima, Hidetoshi, Kluivers, Kirsten B., Kocher, Thomas, Komulainen, Pirjo, Kontto, Jukka, Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kriebel, Jennifer, Kuivaniemi, Helena, Küry, Sébastien, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lakka, Timo A., Lange, Ethan M., Lange, Leslie A., Langefeld, Carl D., Langenberg, Claudia, Larson, Eric B., Lee, I-Te, Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Yeheng, Liu, Yongmei, Lophatananon, Artitaya, Luan, Jianʼan, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Mackey, David A., Madden, Pamela A. F., Manning, Alisa K., Männistö, Satu, Marenne, Gaëlle, Marten, Jonathan, Martin, Nicholas G., Mazul, Angela L., Meidtner, Karina, Metspalu, Andres, Mitchell, Paul, Mohlke, Karen L., Mook-Kanamori, Dennis O., Morgan, Anna, Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Nauck, Matthias, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Ntalla, Ioanna, OʼConnel, Jeffrey R., Oksa, Heikki, Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Person, Thomas N., Pirie, Ailith, Polasek, Ozren, Posthuma, Danielle, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Ridker, Paul M., Rioux, John D., Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sandow, Kevin, Sapkota, Yadav, Sattar, Naveed, Schmidt, Marjanka K., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati, Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert Vernon, Smith, Jennifer A., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Steinthorsdottir, Valgerdur, Stringham, Heather M., Stumvoll, Michael, Surendran, Praveen, Hart, Leen M.ʼt, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Ulivi, Sheila, van der Laan, Sander W., Van Der Leij, Andries R., van Duijn, Cornelia M., van Schoor, Natasja M., van Setten, Jessica, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Vozzi, Diego, Walker, Mark, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Wareham, Nicholas J., Warren, Helen R., Wessel, Jennifer, Willems, Sara M., Wilson, James G., Witte, Daniel R., Woods, Michael O., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zheng, He, Zhou, Wei, Rotter, Jerome I, Boehnke, Michael, Kathiresan, Sekar, McCarthy, Mark I., Willer, Cristen J., Stefansson, Kari, Borecki, Ingrid B., Liu, Dajiang J., North, Kari E., Heard-Costa, Nancy L., Pers, Tune H., Lindgren, Cecilia M., Oxvig, Claus, Kutalik, Zoltán, Rivadeneira, Fernando, Loos, Ruth J. F., Frayling, Timothy M., Hirschhorn, Joel N., Deloukas, Panos, and Lettre, Guillaume
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- 2017
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23. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- Author
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Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., Loos, Ruth J. F., CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators, and Understanding Society Scientific Group
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- 2018
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24. The HUNT Study: a population-based cohort for genetic research
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Brumpton, Ben M., primary, Graham, Sarah, additional, Surakka, Ida, additional, Skogholt, Anne Heidi, additional, Løset, Mari, additional, Fritsche, Lars G., additional, Wolford, Brooke, additional, Zhou, Wei, additional, Nielsen, Jonas Bille, additional, Holmen, Oddgeir L., additional, Gabrielsen, Maiken E., additional, Thomas, Laurent, additional, Bhatta, Laxmi, additional, Rasheed, Humaira, additional, Zhang, He, additional, Kang, Hyun Min, additional, Hornsby, Whitney, additional, Moksnes, Marta R., additional, Coward, Eivind, additional, Melbye, Mads, additional, Giskeødegård, Guro F., additional, Fenstad, Jørn, additional, Krokstad, Steinar, additional, Næss, Marit, additional, Langhammer, Arnulf, additional, Boehnke, Michael, additional, Abecasis, Gonçalo R., additional, Åsvold, Bjørn Olav, additional, Hveem, Kristian, additional, and Willer, Cristen J., additional
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- 2021
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25. Supplement to: Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
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Crosby, Jacy, Peloso, Gina M., Auer, Paul L., Crosslin, David R., Stitziel, Nathan O., Lange, Leslie A., Lu, Yingchang, Tang, Zheng-zheng, Zhang, He, Hindy, George, Masca, Nicholas, Stirrups, Kathleen, Kanoni, Stavroula, Do, Ron, Jun, Goo, Hu, Youna, Kang, Hyun Min, Xue, Chenyi, Goel, Anuj, Farrall, Martin, Duga, Stefano, Merlini, Pier Angelica, Asselta, Rosanna, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Yin, Wu, Reilly, Dermot, Speliotes, Elizabeth, Fox, Caroline S., Hveem, Kristian, Holmen, Oddgeir L., Nikpay, Majid, Farlow, Deborah N., Assimes, Themistocles L., Franceschini, Nora, Robinson, Jennifer, North, Kari E., Martin, Lisa W., DePristo, Mark, Gupta, Namrata, Escher, Stefan A., Jansson, Jan-Håkan, Zuydam, Natalie Van, Palmer, Colin N.A., Wareham, Nicholas, Koch, Werner, Meitinger, Thomas, Peters, Annette, Lieb, Wolfgang, Erbel, Raimund, Konig, Inke R., Kruppa, Jochen, Degenhardt, Franziska, Gottesman, Omri, Bottinger, Erwin P., OʼDonnell, Christopher J., Psaty, Bruce M., Ballantyne, Christie M., Abecasis, Goncalo, Ordovas, Jose M., Melander, Olle, Watkins, Hugh, Orho-Melander, Marju, Ardissino, Diego, Loos, Ruth J.F., McPherson, Ruth, Willer, Cristen J., Erdmann, Jeanette, Hall, Alistair S., Samani, Nilesh J., Deloukas, Panos, Schunkert, Heribert, Wilson, James G., Kooperberg, Charles, Rich, Stephen S., Tracy, Russell P., Lin, Dan-Yu, Altshuler, David, Gabriel, Stacey, Nickerson, Deborah A., Jarvik, Gail P., Cupples, Adrienne L., Reiner, Alex P., Boerwinkle, Eric, and Kathiresan, Sekar
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- 2014
26. Characterization of the genetic architecture of BMI in infancy and early childhood reveals age-specific effects and implicates pathways involved in Mendelian obesity
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Helgeland, Oyvind, primary, Vaudel, Marc, additional, Sole-Navais, Pol, additional, Flatley, Christopher, additional, Juodakis, Julius, additional, Bacelis, Jonas, additional, Koloen, Ingvild L., additional, Peggy Knudsen, Gun, additional, Johansson, Bente B., additional, Magnus, Per, additional, Reichborn Kjennerud, Ted, additional, Juliusson, Petur B., additional, Stoltenberg, Camilla, additional, Holmen, Oddgeir L., additional, Andreassen, Ole, additional, Jacobsson, Bo, additional, Njolstad, Pal Rasmus, additional, and Johansson, Stefan, additional
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- 2021
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27. No large-effect low-frequency coding variation found for myocardial infarction
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Holmen, Oddgeir L., Zhang, He, Zhou, Wei, Schmidt, Ellen, Hovelson, Daniel H., Langhammer, Arnulf, Løchen, Maja-Lisa, Ganesh, Santhi K., Mathiesen, Ellisiv B., Vatten, Lars, Platou, Carl, Wilsgaard, Tom, Chen, Jin, Skorpen, Frank, Dalen, Håvard, Boehnke, Michael, Abecasis, Goncalo R., Njølstad, Inger, Hveem, Kristian, and Willer, Cristen J.
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- 2014
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28. Narrow-sense heritability estimation of complex traits using identity-by-descent information
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Evans, Luke M., Tahmasbi, Rasool, Jones, Matthew, Vrieze, Scott I., Abecasis, Gonçalo R., Das, Sayantan, Bjelland, Doug W., deCandia, Teresa R., Abecasis, Gonçalo, Altshuler, David, Anderson, Carl A, Angius, Andrea, Barrett, Jeffrey C, Berndt, Sonja, Boehnke, Michael, Boomsma, Dorrett, Branham, Kari, Breen, Gerome, Brummett, Chad M, Busonero, Fabio, Campbell, Harry, Campbell, Peter, Chan, Andrew, Chen, Sai, Chew, Emily, Cocca, Massimiliano, Collins, Francis S, Corbin, Laura J, Cucca, Francesco, Danecek, Petr, de Bakker, Paul I W, Dedoussis, George, Dekker, Annelot, Delaneau, Olivier, Dorr, Marcus, Durbin, Richard, Farmaki, Aliki-Eleni, Ferrucci, Luigi, Forer, Lukas, Fraser, Ross M, Frayling, Timothy, Fuchsberger, Christian, Gabriel, Stacey, Gandin, Ilaria, Gasparini, Paolo, Gillies, Christopher E, Gilly, Arthur, Groop, Leif, Harrison, Tabitha, Hattersley, Andrew, Holmen, Oddgeir L, Hveem, Kristian, Iacono, William, Joshi, Amit, Kang, Hyun Min, Khalili, Hamed, Kooperberg, Charles, Koskinen, Seppo, Kretzler, Matthias, Kretzschmar, Warren, Kwong, Alan, Lee, James C, Levy, Shawn, Luo, Yang, Mahajan, Anubha, Marchini, Jonathan, McCarroll, Steven, McCarthy, Mark I, McCarthy, Shane, McGue, Matt, McInnis, Melvin, Meitinger, Thomas, Melzer, David, Mezzavilla, Massimo, Min, Josine L, Mohlke, Karen L, Myers, Richard M, Nauck, Matthias, Nickerson, Deborah, Palotie, Aarno, Pato, Carlos, Pato, Michele, Peters, Ulrike, Pirastu, Nicola, Rheenen, Wouter Van, Richards, J Brent, Ripatti, Samuli, Sala, Cinzia, Salomaa, Veikko, Sampson, Matthew G, Schlessinger, David, Schoen, Robert E, Schoenherr, Sebastian, Scott, Laura J, Sharp, Kevin, Sidore, Carlo, Slagboom, P Eline, Small, Kerrin, Smith, George Davey, Soranzo, Nicole, Spector, Timothy, Stambolian, Dwight, Swaroop, Anand, Swertz, Morris A, Teumer, Alexander, Timpson, Nicholas, Toniolo, Daniela, Traglia, Michela, Tuke, Marcus, Tuomilehto, Jaakko, den Berg, Leonard H Van, van Duijn, Cornelia M, Veldink, Jan, Vincent, John B, Volker, Uwe, Vrieze, Scott, Walter, Klaudia, Wijmenga, Cisca, Willer, Cristen, Wilson, James F, Wood, Andrew R, Zeggini, Eleftheria, Zhang, He, Yang, Jian, Goddard, Michael E., Visscher, Peter M., and Keller, Matthew C.
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0301 basic medicine ,Genome-wide association study ,Biology ,Population stratification ,Genetic correlation ,Polymorphism, Single Nucleotide ,Identity by descent ,Article ,03 medical and health sciences ,0302 clinical medicine ,Gene Frequency ,Missing heritability problem ,Genetic variation ,Genetics ,Chromosomes, Human ,Humans ,Human height ,Genetics (clinical) ,030304 developmental biology ,0303 health sciences ,Genome, Human ,Heritability ,Twin study ,Minor allele frequency ,Phenotype ,030104 developmental biology ,Haplotypes ,Evolutionary biology ,Trait ,030217 neurology & neurosurgery - Abstract
Heritability is a fundamental parameter in genetics. Traditional estimates based on family or twin studies can be biased due to shared environmental or non-additive genetic variance. Alternatively, those based on genotyped or imputed variants typically underestimate narrow-sense heritability contributed by rare or otherwise poorly tagged causal variants. Identical-by-descent (IBD) segments of the genome share all variants between pairs of chromosomes except new mutations that have arisen since the last common ancestor. Therefore, relating phenotypic similarity to degree of IBD sharing among classically unrelated individuals is an appealing approach to estimating the near full additive genetic variance while possibly avoiding biases that can occur when modeling close relatives. We applied an IBD-based approach (GREML-IBD) to estimate heritability in unrelated individuals using phenotypic simulation with thousands of whole-genome sequences across a range of stratification, polygenicity levels, and the minor allele frequencies of causal variants (CVs). In simulations, the IBD-based approach produced unbiased heritability estimates, even when CVs were extremely rare, although precision was low. However, population stratification and non-genetic familial environmental effects shared across generations led to strong biases in IBD-based heritability. We used data on two traits in ~120,000 people from the UK Biobank to demonstrate that, depending on the trait and possible confounding environmental effects, GREML-IBD can be applied to very large genetic datasets to infer the contribution of very rare variants lost using other methods. However, we observed apparent biases in these real data, suggesting that more work may be required to understand and mitigate factors that influence IBD-based heritability estimates.
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- 2018
29. Temporal Changes in Cardiac Troponin I Are Associated with Risk of Cardiovascular Events in the General Population: The Nord-Trøndelag Health Study
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Lyngbakken, Magnus N, primary, Røsjø, Helge, primary, Holmen, Oddgeir L, primary, Dalen, Håvard, primary, Hveem, Kristian, primary, and Omland, Torbjørn, primary
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- 2019
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30. Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease
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Nielsen, Jonas B., primary, Rom, Oren, additional, Surakka, Ida, additional, Graham, Sarah E., additional, Zhou, Wei, additional, Fritsche, Lars G., additional, Gagliano Taliun, Sarah A., additional, Sidore, Carlo, additional, Liu, Yuhao, additional, Gabrielsen, Maiken E., additional, Skogholt, Anne Heidi, additional, Wolford, Brooke, additional, Overton, William, additional, Hornsby, Whitney E., additional, Acheampong, Akua, additional, Grooms, Austen, additional, Roychowdhury, Tanmoy, additional, Schaefer, Amanda, additional, Zajac, Gregory JM, additional, Villacorta, Luis, additional, Zhang, Jifeng, additional, Brumpton, Ben, additional, Løset, Mari, additional, Rai, Vivek, additional, Taylor, Kent D., additional, Palmer, Nicholette D., additional, Chen, Yii-Der, additional, Choi, Seung Hoan, additional, Lubitz, Steven A., additional, Ellinor, Patrick T., additional, Barnes, Kathleen C., additional, Daya, Michelle, additional, Rafaels, Nicholas, additional, Weiss, Scott T., additional, Lasky-Su, Jessica, additional, Tracy, Russell P., additional, Vasan, Ramachandran S., additional, Cupples, L. Adrienne, additional, Mathias, Rasika A., additional, Yanek, Lisa R., additional, Becker, Lewis C., additional, Peyser, Patricia A., additional, Bielak, Lawrence F., additional, Smith, Jennifer A., additional, Aslibekyan, Stella, additional, Hildalgo, Bertha A., additional, Arnett, Donna K., additional, Irvin, Marguerite R., additional, Wilson, James G., additional, Musani, Solomon K., additional, Correa, Adolfo, additional, Rich, Stephen S., additional, Guo, Xiuqing, additional, Rotter, Jerome I., additional, Konkle, Barbara A., additional, Johnsen, Jill M., additional, Ashley-Koch, Allison E., additional, Telen, Marilyn J., additional, Sheehan, Vivien A., additional, Blangero, John, additional, Curran, Joanne E., additional, Peralta, Juan M., additional, Montgomery, Courtney, additional, Sheu, Wayne H-H, additional, Chung, Ren-Hua, additional, Schwander, Karen, additional, Nouraie, Seyed M., additional, Gordeuk, Victor R., additional, Zhang, Yingze, additional, Kooperberg, Charles, additional, Reiner, Alexander P., additional, Jackson, Rebecca D., additional, Bleecker, Eugene R., additional, Meyers, Deborah A., additional, Li, Xingnan, additional, Das, Sayantan, additional, Yu, Ketian, additional, LeFaive, Jonathon, additional, Smith, Albert, additional, Blackwell, Tom, additional, Taliun, Daniel, additional, Zollner, Sebastian, additional, Forer, Lukas, additional, Schoenherr, Sebastian, additional, Fuchsberger, Christian, additional, Pandit, Anita, additional, Zawistowski, Matthew, additional, Kheterpal, Sachin, additional, Brummett, Chad M., additional, Natarajan, Pradeep, additional, Schlessinger, David, additional, Lee, Seunggeun, additional, Kang, Hyun Min, additional, Cucca, Francesco, additional, Holmen, Oddgeir L., additional, Åsvold, Bjørn O., additional, Boehnke, Michael, additional, Kathiresan, Sekar, additional, Abecasis, Goncalo, additional, Chen, Y. Eugene, additional, Willer, Cristen J., additional, and Hveem, Kristian, additional
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- 2019
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31. Prediction of Ankylosing Spondylitis in the HUNT Study by a Genetic Risk Score Combining 110 Single-nucleotide Polymorphisms of Genome-wide Significance
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Rostami, Sina, primary, Hoff, Mari, additional, Brown, Matthew A., additional, Hveem, Kristian, additional, Holmen, Oddgeir L., additional, Fritsche, Lars G., additional, and Videm, Vibeke, additional
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- 2019
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32. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease (vol 374, pg 1134, 2016)
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Stitziel, Nathan O, Stirrups, Kathleen E, Masca, Nicholas GD, Erdmann, Jeanette, Ferrario, Paola G, Koenig, Inke R, Weeke, Peter E, Webb, Thomas R, Auer, Paul L, Schick, Ursula M, Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M, Won, Hong-Hee, Do, Ron, Van Iperen, Erik, Kanoni, Stavroula, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A, Willenborg, Christina, Braund, Peter S, Van Capelleveen, Julian C, Doney, Alex SF, Donnelly, Louise A, Asselta, Rosanna, Merlini, Piera A, Duga, Stefano, Marziliano, Nicola, Denny, Josh C, Shaffer, Christian M, El-Mokhtari, Nour Eddine, Franke, Andre, Gottesman, Omri, Heilmann, Stefanie, Hengstenberg, Christian, Hoffmann, Per, Holmen, Oddgeir L, Hveem, Kristian, Jansson, Jan-Hakan, Joeckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L, Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I, Van Zuydam, Natalie R, Meisinger, Christa, Esko, Tonu, Mihailov, Evelin, Escher, Stefan A, Alver, Maris, Moebus, Susanne, Morris, Andrew D, Muller-Nurasyid, Martina, Nikpay, Majid, Olivieri, Oliviero, Perreault, Louis-Philippe Lemieux, AlQarawi, Alaa, Robertson, Neil R, Akinsanya, Karen O, Reilly, Dermot F, Vogt, Thomas F, Yin, Wu, Asselbergs, Folkert W, Kooperberg, Charles, Jackson, Rebecca D, Stahl, Eli, Strauch, Konstantin, Varga, Tibor V, Waldenberger, Melanie, Zeng, Lingyao, Kraja, Aldi T, Liu, Chunyu, Ehret, Georg B, Newton-Cheh, Christopher, Chasman, Daniel I, Chowdhury, Rajiv, Ferrario, Marco, Ford, Ian, Jukema, J Wouter, Kee, Frank, Kuulasmaa, Kari, Nordestgaard, Borge G, Perola, Markus, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Tregouet, David, Young, Robin, Howson, Joanna MM, Butterworth, Adam S, Danesh, John, Ardissino, Diego, Bottinger, Erwin P, Erbel, Raimund, Franks, Paul W, Girelli, Domenico, Hall, Alistair S, Hovingh, G Kees, Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E, Shah, Svati H, McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin NA, Peters, Annette, Rader, Daniel J, Reilly, Muredach P, Loos, Ruth JF, Reiner, Alex P, Roden, Dan M, Tardif, Jean-Claude, Thompson, John R, Wareham, Nicholas J, Watkins, Hugh, Willer, Cristen J, Kathiresan, Sekar, Deloukas, Panos, Samani, Nilesh J, Schunkert, Heribert, Other departments, Vascular Medicine, Johnson, Kathleen [0000-0002-6823-3252], Surendran, Praveen [0000-0002-4911-6077], Danesh, John [0000-0003-1158-6791], Wareham, Nicholas [0000-0003-1422-2993], and Apollo - University of Cambridge Repository
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03 medical and health sciences ,0302 clinical medicine ,030212 general & internal medicine ,030204 cardiovascular system & hematology - Abstract
BACKGROUND The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10−10) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10−8), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10−4) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10−7). CONCLUSIONS We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health and others.)
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- 2017
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33. Systematic evaluation of pleiotropy identifies 6 further loci associated with coronary artery disease
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Webb, Thomas R., Erdmann, Jeanette, Stirrups, Kathleen E., Stitziel, Nathan O., Masca, Nicholas G.D., Jansen, Henning, Kanoni, Stavroula, Nelson, Christopher P., Ferrario, Paola G., König, Inke R., Eicher, John D., Johnson, Andrew D., Hamby, Stephen E., Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E., Björkegren, Johan L.M., Weeke, Peter E., Auer, Paul L., Schick, Ursula M., Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M., Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A., Willenborg, Christina, Braund, Peter S., van Capelleveen, Julian C., Doney, Alex S.F., Donnelly, Louise A., Asselta, Rosanna, Merlini, Pier A., Duga, Stefano, Marziliano, Nicola, Denny, Josh C., Shaffer, Christian, El-Mokhtari, Nour Eddine, Franke, Andre, Heilmann, Stefanie, Hengstenberg, Christian, Hoffmann, Per, Holmen, Oddgeir L., Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L., Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I., Van Zuydam, Natalie R., Meisinger, Christa, Esko, Tõnu, Mihailov, Evelin, Escher, Stefan A., Alver, Maris, Moebus, Susanne, Morris, Andrew D., Virtamo, Jarma, Nikpay, Majid, Olivieri, Oliviero, Provost, Sylvie, AlQarawi, Alaa, Robertson, Neil R., Akinsansya, Karen O., Reilly, Dermot F., Vogt, Thomas F., Yin, Wu, Asselbergs, Folkert W., Kooperberg, Charles, Jackson, Rebecca D., Stahl, Eli, Müller-Nurasyid, Martina, Strauch, Konstantin, Varga, Tibor V., Waldenberger, Melanie, Zeng, Lingyao, Chowdhury, Rajiv, Salomaa, Veikko, Ford, Ian, Jukema, J. Wouter, Amouyel, Philippe, Kontto, Jukka, Nordestgaard, Børge G., Ferrières, Jean, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Wagner, Aline, Young, Robin, Howson, Joanna M.M., Butterworth, Adam S., Danesh, John, Ardissino, Diego, Bottinger, Erwin P., Erbel, Raimund, Franks, Paul W., Girelli, Domenico, Hall, Alistair S., Hovingh, G. Kees, Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E., Shah, Svati H., McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin N.A., Peters, Annette, Rader, Daniel J., Reilly, Muredach P., Loos, Ruth J.F., Reiner, Alex P., Roden, Dan M., Tardif, Jean-Claude, Thompson, John R., Wareham, Nicholas J., Watkins, Hugh, Willer, Cristen J., Samani, Nilesh J., Schunkert, Heribert, Deloukas, Panos, Kathiresan, Sekar, Vascular Medicine, Graduate School, ACS - Amsterdam Cardiovascular Sciences, and ACS - Atherosclerosis & ischemic syndromes
- Subjects
Medicin och hälsovetenskap ,Kardiologi ,expression quantitative trait loci ,single nucleotide polymorphism ,cholesteryl ester transfer protein ,genome-wide association ,genetics ,Cardiac and Cardiovascular Systems ,Medical and Health Sciences ,Medical Genetics ,R1 ,Medicinsk genetik - Abstract
BACKGROUND Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. OBJECTIVES This study sought to systematically test if genetic variants identified for non-CAD diseases/traits also associate with CAD and to undertake a comprehensive analysis of the extent of pleiotropy of all CAD loci. METHODS In discovery analyses involving 42,335 CAD cases and 78,240 control subjects we tested the association of 29,383 common (minor allele frequency >5%) single nucleotide polymorphisms available on the exome array, which included a substantial proportion of known or suspected single nucleotide polymorphisms associated with common diseases or traits as of 2011. Suggestive association signals were replicated in an additional 30,533 cases and 42,530 control subjects. To evaluate pleiotropy, we tested CAD loci for association with cardiovascular risk factors (lipid traits, blood pressure phenotypes, body mass index, diabetes, and smoking behavior), as well as with other diseases/traits through interrogation of currently available genome-wide association study catalogs. RESULTS We identified 6 new loci associated with CAD at genome-wide significance: on 2q37 (KCNJ13-GIGYF2), 6p21 (C2), 11p15 (MRVI1-CTR9), 12q13 (LRP1), 12q24 (SCARB1), and 16q13 (CETP). Risk allele frequencies ranged from 0.15 to 0.86, and odds ratio per copy of the risk allele ranged from 1.04 to 1.09. Of 62 new and known CAD loci, 24 (38.7%) showed statistical association with a traditional cardiovascular risk factor, with some showing multiple associations, and 29 (47%) showed associations at p < 1 x 10(-4) with a range of other diseases/traits. CONCLUSIONS We identified 6 loci associated with CAD at genome-wide significance. Several CAD loci show substantial pleiotropy, which may help us understand the mechanisms by which these loci affect CAD risk. (C) 2017 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.
- Published
- 2017
34. Prediction of Ankylosing Spondylitis in the HUNT Study by a Genetic Risk Score Combining 110 Single-nucleotide Polymorphisms of Genome-wide Significance.
- Author
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Rostami, Sina, Hoff, Mari, Brown, Matthew A., Hveem, Kristian, Holmen, Oddgeir L., Fritsche, Lars G., and Videm, Vibeke
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- 2020
- Full Text
- View/download PDF
35. Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation
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Nielsen, Jonas B., primary, Thorolfsdottir, Rosa B., additional, Fritsche, Lars G., additional, Zhou, Wei, additional, Skov, Morten W., additional, Graham, Sarah E., additional, Herron, Todd J., additional, McCarthy, Shane, additional, Schmidt, Ellen M., additional, Sveinbjornsson, Gardar, additional, Surakka, Ida, additional, Mathis, Michael R., additional, Yamazaki, Masatoshi, additional, Crawford, Ryan D., additional, Gabrielsen, Maiken E., additional, Skogholt, Anne Heidi, additional, Holmen, Oddgeir L., additional, Lin, Maoxuan, additional, Wolford, Brooke N., additional, Dey, Rounak, additional, Dalen, Håvard, additional, Sulem, Patrick, additional, Chung, Jonathan H., additional, Backman, Joshua D., additional, Arnar, David O., additional, Thorsteinsdottir, Unnur, additional, Baras, Aris, additional, O’Dushlaine, Colm, additional, Holst, Anders G., additional, Wen, Xiaoquan, additional, Hornsby, Whitney, additional, Dewey, Frederick E., additional, Boehnke, Michael, additional, Kheterpal, Sachin, additional, Lee, Seunggeun, additional, Kang, Hyun M., additional, Holm, Hilma, additional, Kitzman, Jacob, additional, Shavit, Jordan A., additional, Jalife, José, additional, Brummett, Chad M., additional, Teslovich, Tanya M., additional, Carey, David J., additional, Gudbjartsson, Daniel F., additional, Stefansson, Kari, additional, Abecasis, Goncalo R., additional, Hveem, Kristian, additional, and Willer, Cristen J., additional
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- 2018
- Full Text
- View/download PDF
36. Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development
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Nielsen, Jonas B., primary, Fritsche, Lars G., additional, Zhou, Wei, additional, Teslovich, Tanya M., additional, Holmen, Oddgeir L., additional, Gustafsson, Stefan, additional, Gabrielsen, Maiken E., additional, Schmidt, Ellen M., additional, Beaumont, Robin, additional, Wolford, Brooke N., additional, Lin, Maoxuan, additional, Brummett, Chad M., additional, Preuss, Michael H., additional, Refsgaard, Lena, additional, Bottinger, Erwin P., additional, Graham, Sarah E., additional, Surakka, Ida, additional, Chu, Yunhan, additional, Skogholt, Anne Heidi, additional, Dalen, Håvard, additional, Boyle, Alan P., additional, Oral, Hakan, additional, Herron, Todd J., additional, Kitzman, Jacob, additional, Jalife, José, additional, Svendsen, Jesper H., additional, Olesen, Morten S., additional, Njølstad, Inger, additional, Løchen, Maja-Lisa, additional, Baras, Aris, additional, Gottesman, Omri, additional, Marcketta, Anthony, additional, O’Dushlaine, Colm, additional, Ritchie, Marylyn D., additional, Wilsgaard, Tom, additional, Loos, Ruth J.F., additional, Frayling, Timothy M., additional, Boehnke, Michael, additional, Ingelsson, Erik, additional, Carey, David J., additional, Dewey, Frederick E., additional, Kang, Hyun M., additional, Abecasis, Gonçalo R., additional, Hveem, Kristian, additional, and Willer, Cristen J., additional
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- 2018
- Full Text
- View/download PDF
37. Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease
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Webb, Thomas R., Erdmann, Jeanette, Stirrups, Kathleen E., Stitziel, Nathan O., Masca, Nicholas G.D., Jansen, Henning, Kanoni, Stavroula, Nelson, Christopher P., Ferrario, Paola G., König, Inke R., Eicher, John D., Johnson, Andrew D., Hamby, Stephen E., Betsholtz, Christer, Ruusalepp, Arno, Franzén, Oscar, Schadt, Eric E., Björkegren, Johan L.M., Weeke, Peter E., Auer, Paul L., Schick, Ursula M., Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M., Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A., Willenborg, Christina, Braund, Peter S., van Capelleveen, Julian C., Doney, Alex S.F., Donnelly, Louise A., Asselta, Rosanna, Merlini, Pier A., Duga, Stefano, Marziliano, Nicola, Denny, Josh C., Shaffer, Christian, El-Mokhtari, Nour Eddine, Franke, Andre, Heilmann, Stefanie, Hengstenberg, Christian, Hoffmann, Per, Holmen, Oddgeir L., Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L., Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I., Van Zuydam, Natalie R., Meisinger, Christa, Esko, Tõnu, Mihailov, Evelin, Escher, Stefan A., Alver, Maris, Moebus, Susanne, Morris, Andrew D., Virtamo, Jarma, Nikpay, Majid, Olivieri, Oliviero, Provost, Sylvie, AlQarawi, Alaa, Robertson, Neil R., Akinsansya, Karen O., Reilly, Dermot F., Vogt, Thomas F., Yin, Wu, Asselbergs, Folkert W., Kooperberg, Charles, Jackson, Rebecca D., Stahl, Eli, Müller-Nurasyid, Martina, Strauch, Konstantin, Varga, Tibor V., Waldenberger, Melanie, Zeng, Lingyao, Chowdhury, Rajiv, Salomaa, Veikko, Ford, Ian, Jukema, J. Wouter, Amouyel, Philippe, Kontto, Jukka, Nordestgaard, Børge G., Ferrières, Jean, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Wagner, Aline, Young, Robin, Howson, Joanna M.M., Butterworth, Adam S., Danesh, John, Ardissino, Diego, Bottinger, Erwin P., Erbel, Raimund, Franks, Paul W., Girelli, Domenico, Hall, Alistair S., Hovingh, G. Kees, Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E., Shah, Svati H., McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin N.A., Peters, Annette, Rader, Daniel J., Reilly, Muredach P., Loos, Ruth J.F., Reiner, Alex P., Roden, Dan M., Tardif, Jean-Claude, Thompson, John R., Wareham, Nicholas J., Watkins, Hugh, Willer, Cristen J., Samani, Nilesh J., Schunkert, Heribert, Deloukas, Panos, and Kathiresan, Sekar
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Male ,expression quantitative trait loci ,cholesteryl ester transfer protein ,Medizin ,Genetic Pleiotropy ,Coronary Artery Disease ,genetics ,genome-wide association ,single nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Gene Frequency ,Genetic Loci ,Case-Control Studies ,Odds Ratio ,Humans ,Female ,Cardiology and Cardiovascular Medicine ,Genome-Wide Association Study - Abstract
Background Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. Objectives This study sought to systematically test if genetic variants identified for non-CAD diseases/traits also associate with CAD and to undertake a comprehensive analysis of the extent of pleiotropy of all CAD loci. Methods In discovery analyses involving 42,335 CAD cases and 78,240 control subjects we tested the association of 29,383 common (minor allele frequency >5%) single nucleotide polymorphisms available on the exome array, which included a substantial proportion of known or suspected single nucleotide polymorphisms associated with common diseases or traits as of 2011. Suggestive association signals were replicated in an additional 30,533 cases and 42,530 control subjects. To evaluate pleiotropy, we tested CAD loci for association with cardiovascular risk factors (lipid traits, blood pressure phenotypes, body mass index, diabetes, and smoking behavior), as well as with other diseases/traits through interrogation of currently available genome-wide association study catalogs. Results We identified 6 new loci associated with CAD at genome-wide significance: on 2q37 (KCNJ13-GIGYF2), 6p21 (C2), 11p15 (MRVI1-CTR9), 12q13 (LRP1), 12q24 (SCARB1), and 16q13 (CETP). Risk allele frequencies ranged from 0.15 to 0.86, and odds ratio per copy of the risk allele ranged from 1.04 to 1.09. Of 62 new and known CAD loci, 24 (38.7%) showed statistical association with a traditional cardiovascular risk factor, with some showing multiple associations, and 29 (47%) showed associations at p < 1 × 10−4 with a range of other diseases/traits. Conclusions We identified 6 loci associated with CAD at genome-wide significance. Several CAD loci show substantial pleiotropy, which may help us understand the mechanisms by which these loci affect CAD risk.
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- 2016
38. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
- Author
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Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel, Nathan O, Stirrups, Kathleen E, Masca, Nicholas GD, Erdmann, Jeanette, Ferrario, Paola G, König, Inke R, Weeke, Peter E, Webb, Thomas R, Auer, Paul L, Schick, Ursula M, Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M, Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kanoni, Stavroula, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A, Willenberg, Christina, Braund, Peter S, van Capelleveen, Julian C, Doney, Alex SF, Donnelly, Louise A, Asselta, Rosanna, Merlini, Piera A, Duga, Stefano, Marziliano, Nicola, Denny, Josh C, Shaffer, Christian M, El-Mokhtari, Nour Eddine, Franke, Andre, Gottesman, Omri, Heilmann, Stefanie, Hengstenberg, Christian, Hoffman, Per, Holmen, Oddgeir L, Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L, Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I, Van Zuydam, Natalie R, Meisinger, Christa, Esko, Tõnu, Mihailov, Evelin, Escher, Stefan A, Alver, Maris, Moebus, Susanne, Morris, Andrew D, Müller-Nurasyid, Martina, Nikpay, Majid, Olivieri, Oliviero, Lemieux Perreault, Louis-Philippe, AlQarawi, Alaa, Robertson, Neil R, Akinsanya, Karen O, Reilly, Dermot F, Vogt, Thomas F, Yin, Wu, Asselbergs, Folkert W, Kooperberg, Charles, Jackson, Rebecca D, Stahl, Eli, Strauch, Konstantin, Varga, Tibor V, Waldenberger, Melanie, Zeng, Lingyao, Kraja, Aldi T, Liu, Chunyu, Ehret, George B, Newton-Cheh, Christopher, Chasman, Daniel I, Chowdhury, Rajiv, Ferrario, Marco, Ford, Ian, Jukema, J Wouter, Kee, Frank, Kuulasmaa, Kari, Nordestgaard, Børge G, Perola, Markus, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Tregouet, David, Young, Robin, Howson, Joanna MM, Butterworth, Adam S, Danesh, John, Ardissino, Diego, Bottinger, Erwin P, Erbel, Raimund, Franks, Paul W, Girelli, Domenico, Hall, Alistair S, Hovingh, G Kees, Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E, Shah, Svati H, McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin NA, Peters, Annette, Rader, Daniel, Reilly, Muredach P, Loos, Ruth JF, Reiner, Alex P, Roden, Dan M, Tardif, Jean-Claude, Thompson, John R, Wareham, Nicholas J, Watkins, Hugh, Willer, Cristen J, Kathiresan, Sekkar, Deloukas, Panos, Samani, Nilesh J, Schunkert, Heribert, Johnson, Kathleen [0000-0002-6823-3252], Chowdhury, Rajiv [0000-0003-4881-5690], Surendran, Praveen [0000-0002-4911-6077], Howson, Joanna [0000-0001-7618-0050], Butterworth, Adam [0000-0002-6915-9015], Danesh, John [0000-0003-1158-6791], Wareham, Nicholas [0000-0003-1422-2993], and Apollo - University of Cambridge Repository
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Male ,Genotyping Techniques ,education ,Mutation, Missense ,Coronary Artery Disease ,Sequence Analysis, DNA ,Middle Aged ,Lipoprotein Lipase ,Risk Factors ,Mutation ,Angiopoietin-Like Protein 4 ,Humans ,Female ,Angiopoietins ,Cell Adhesion Molecules ,Triglycerides ,Aged - Abstract
BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS: We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7)). CONCLUSIONS: We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health and others.).
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- 2016
39. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
- Author
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Stitziel, Nathan O, Stirrups, Kathleen E, Masca, Nicholas G D, Erdmann, Jeanette, Ferrario, Paola G, König, Inke R, Weeke, Peter E, Webb, Thomas R, Auer, Paul L, Schick, Ursula M, Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M, Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kanoni, Stavroula, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A, Willenberg, Christina, Braund, Peter S, van Capelleveen, Julian C, Doney, Alex S F, Donnelly, Louise A, Asselta, Rosanna, Merlini, Piera A, Duga, Stefano, Marziliano, Nicola, Denny, Josh C, Shaffer, Christian M, El-Mokhtari, Nour Eddine, Franke, Andre, Gottesman, Omri, Heilmann, Stefanie, Hengstenberg, Christian, Hoffman, Per, Holmen, Oddgeir L, Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L, Marouli, Eirini, Martinelli, Nicola, Asselbergs, Folkert W, and Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators
- Subjects
Male ,Genotyping Techniques ,Research Support, Non-U.S. Gov't ,Mutation, Missense ,Coronary Artery Disease ,Sequence Analysis, DNA ,Middle Aged ,Lipoprotein Lipase ,Research Support, N.I.H., Extramural ,Risk Factors ,Mutation ,Journal Article ,Humans ,Female ,Angiopoietins ,Cell Adhesion Molecules ,Triglycerides ,Aged - Abstract
BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS: We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7)). CONCLUSIONS: We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health and others.).
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- 2016
40. Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels
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Zhou, Wei, primary, Fritsche, Lars G., additional, Das, Sayantan, additional, Zhang, He, additional, Nielsen, Jonas B., additional, Holmen, Oddgeir L., additional, Chen, Jin, additional, Lin, Maoxuan, additional, Elvestad, Maiken B., additional, Hveem, Kristian, additional, Abecasis, Goncalo R., additional, Kang, Hyun Min, additional, and Willer, Cristen J., additional
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- 2017
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- View/download PDF
41. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
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Justice, Anne E., primary, Winkler, Thomas W., additional, Feitosa, Mary F., additional, Graff, Misa, additional, Fisher, Virginia A., additional, Young, Kristin, additional, Barata, Llilda, additional, Deng, Xuan, additional, Czajkowski, Jacek, additional, Hadley, David, additional, Ngwa, Julius S., additional, Ahluwalia, Tarunveer S., additional, Chu, Audrey Y., additional, Heard-Costa, Nancy L., additional, Lim, Elise, additional, Perez, Jeremiah, additional, Eicher, John D., additional, Kutalik, Zoltán, additional, Xue, Luting, additional, Mahajan, Anubha, additional, Renström, Frida, additional, Wu, Joseph, additional, Qi, Qibin, additional, Ahmad, Shafqat, additional, Alfred, Tamuno, additional, Amin, Najaf, additional, Bielak, Lawrence F., additional, Bonnefond, Amelie, additional, Bragg, Jennifer, additional, Cadby, Gemma, additional, Chittani, Martina, additional, Coggeshall, Scott, additional, Corre, Tanguy, additional, Direk, Nese, additional, Eriksson, Joel, additional, Fischer, Krista, additional, Gorski, Mathias, additional, Neergaard Harder, Marie, additional, Horikoshi, Momoko, additional, Huang, Tao, additional, Huffman, Jennifer E., additional, Jackson, Anne U., additional, Justesen, Johanne Marie, additional, Kanoni, Stavroula, additional, Kinnunen, Leena, additional, Kleber, Marcus E., additional, Komulainen, Pirjo, additional, Kumari, Meena, additional, Lim, Unhee, additional, Luan, Jian'an, additional, Lyytikäinen, Leo-Pekka, additional, Mangino, Massimo, additional, Manichaikul, Ani, additional, Marten, Jonathan, additional, Middelberg, Rita P. S., additional, Müller-Nurasyid, Martina, additional, Navarro, Pau, additional, Pérusse, Louis, additional, Pervjakova, Natalia, additional, Sarti, Cinzia, additional, Smith, Albert Vernon, additional, Smith, Jennifer A., additional, Stančáková, Alena, additional, Strawbridge, Rona J., additional, Stringham, Heather M., additional, Sung, Yun Ju, additional, Tanaka, Toshiko, additional, Teumer, Alexander, additional, Trompet, Stella, additional, van der Laan, Sander W., additional, van der Most, Peter J., additional, Van Vliet-Ostaptchouk, Jana V., additional, Vedantam, Sailaja L., additional, Verweij, Niek, additional, Vink, Jacqueline M., additional, Vitart, Veronique, additional, Wu, Ying, additional, Yengo, Loic, additional, Zhang, Weihua, additional, Hua Zhao, Jing, additional, Zimmermann, Martina E., additional, Zubair, Niha, additional, Abecasis, Gonçalo R., additional, Adair, Linda S., additional, Afaq, Saima, additional, Afzal, Uzma, additional, Bakker, Stephan J. L., additional, Bartz, Traci M., additional, Beilby, John, additional, Bergman, Richard N., additional, Bergmann, Sven, additional, Biffar, Reiner, additional, Blangero, John, additional, Boerwinkle, Eric, additional, Bonnycastle, Lori L., additional, Bottinger, Erwin, additional, Braga, Daniele, additional, Buckley, Brendan M., additional, Buyske, Steve, additional, Campbell, Harry, additional, Chambers, John C., additional, Collins, Francis S., additional, Curran, Joanne E., additional, de Borst, Gert J., additional, de Craen, Anton J. M., additional, de Geus, Eco J. C., additional, Dedoussis, George, additional, Delgado, Graciela E., additional, den Ruijter, Hester M., additional, Eiriksdottir, Gudny, additional, Eriksson, Anna L., additional, Esko, Tõnu, additional, Faul, Jessica D., additional, Ford, Ian, additional, Forrester, Terrence, additional, Gertow, Karl, additional, Gigante, Bruna, additional, Glorioso, Nicola, additional, Gong, Jian, additional, Grallert, Harald, additional, Grammer, Tanja B., additional, Grarup, Niels, additional, Haitjema, Saskia, additional, Hallmans, Göran, additional, Hamsten, Anders, additional, Hansen, Torben, additional, Harris, Tamara B., additional, Hartman, Catharina A., additional, Hassinen, Maija, additional, Hastie, Nicholas D., additional, Heath, Andrew C., additional, Hernandez, Dena, additional, Hindorff, Lucia, additional, Hocking, Lynne J., additional, Hollensted, Mette, additional, Holmen, Oddgeir L., additional, Homuth, Georg, additional, Jan Hottenga, Jouke, additional, Huang, Jie, additional, Hung, Joseph, additional, Hutri-Kähönen, Nina, additional, Ingelsson, Erik, additional, James, Alan L., additional, Jansson, John-Olov, additional, Jarvelin, Marjo-Riitta, additional, Jhun, Min A., additional, Jørgensen, Marit E., additional, Juonala, Markus, additional, Kähönen, Mika, additional, Karlsson, Magnus, additional, Koistinen, Heikki A., additional, Kolcic, Ivana, additional, Kolovou, Genovefa, additional, Kooperberg, Charles, additional, Krämer, Bernhard K., additional, Kuusisto, Johanna, additional, Kvaløy, Kirsti, additional, Lakka, Timo A., additional, Langenberg, Claudia, additional, Launer, Lenore J., additional, Leander, Karin, additional, Lee, Nanette R., additional, Lind, Lars, additional, Lindgren, Cecilia M., additional, Linneberg, Allan, additional, Lobbens, Stephane, additional, Loh, Marie, additional, Lorentzon, Mattias, additional, Luben, Robert, additional, Lubke, Gitta, additional, Ludolph-Donislawski, Anja, additional, Lupoli, Sara, additional, Madden, Pamela A. F., additional, Männikkö, Reija, additional, Marques-Vidal, Pedro, additional, Martin, Nicholas G., additional, McKenzie, Colin A., additional, McKnight, Barbara, additional, Mellström, Dan, additional, Menni, Cristina, additional, Montgomery, Grant W., additional, Musk, AW, additional, Narisu, Narisu, additional, Nauck, Matthias, additional, Nolte, Ilja M., additional, Oldehinkel, Albertine J., additional, Olden, Matthias, additional, Ong, Ken K., additional, Padmanabhan, Sandosh, additional, Peyser, Patricia A., additional, Pisinger, Charlotta, additional, Porteous, David J., additional, Raitakari, Olli T., additional, Rankinen, Tuomo, additional, Rao, D. C., additional, Rasmussen-Torvik, Laura J., additional, Rawal, Rajesh, additional, Rice, Treva, additional, Ridker, Paul M., additional, Rose, Lynda M., additional, Bien, Stephanie A., additional, Rudan, Igor, additional, Sanna, Serena, additional, Sarzynski, Mark A., additional, Sattar, Naveed, additional, Savonen, Kai, additional, Schlessinger, David, additional, Scholtens, Salome, additional, Schurmann, Claudia, additional, Scott, Robert A., additional, Sennblad, Bengt, additional, Siemelink, Marten A., additional, Silbernagel, Günther, additional, Slagboom, P Eline, additional, Snieder, Harold, additional, Staessen, Jan A., additional, Stott, David J., additional, Swertz, Morris A., additional, Swift, Amy J., additional, Taylor, Kent D., additional, Tayo, Bamidele O., additional, Thorand, Barbara, additional, Thuillier, Dorothee, additional, Tuomilehto, Jaakko, additional, Uitterlinden, Andre G., additional, Vandenput, Liesbeth, additional, Vohl, Marie-Claude, additional, Völzke, Henry, additional, Vonk, Judith M., additional, Waeber, Gérard, additional, Waldenberger, Melanie, additional, Westendorp, R. G. J., additional, Wild, Sarah, additional, Willemsen, Gonneke, additional, Wolffenbuttel, Bruce H. R., additional, Wong, Andrew, additional, Wright, Alan F., additional, Zhao, Wei, additional, Zillikens, M Carola, additional, Baldassarre, Damiano, additional, Balkau, Beverley, additional, Bandinelli, Stefania, additional, Böger, Carsten A., additional, Boomsma, Dorret I., additional, Bouchard, Claude, additional, Bruinenberg, Marcel, additional, Chasman, Daniel I., additional, Chen, Yii-DerIda, additional, Chines, Peter S., additional, Cooper, Richard S., additional, Cucca, Francesco, additional, Cusi, Daniele, additional, Faire, Ulf de, additional, Ferrucci, Luigi, additional, Franks, Paul W., additional, Froguel, Philippe, additional, Gordon-Larsen, Penny, additional, Grabe, Hans- Jörgen, additional, Gudnason, Vilmundur, additional, Haiman, Christopher A., additional, Hayward, Caroline, additional, Hveem, Kristian, additional, Johnson, Andrew D., additional, Wouter Jukema, J, additional, Kardia, Sharon L. R., additional, Kivimaki, Mika, additional, Kooner, Jaspal S., additional, Kuh, Diana, additional, Laakso, Markku, additional, Lehtimäki, Terho, additional, Marchand, Loic Le, additional, März, Winfried, additional, McCarthy, Mark I., additional, Metspalu, Andres, additional, Morris, Andrew P., additional, Ohlsson, Claes, additional, Palmer, Lyle J., additional, Pasterkamp, Gerard, additional, Pedersen, Oluf, additional, Peters, Annette, additional, Peters, Ulrike, additional, Polasek, Ozren, additional, Psaty, Bruce M., additional, Qi, Lu, additional, Rauramaa, Rainer, additional, Smith, Blair H., additional, Sørensen, Thorkild I. A., additional, Strauch, Konstantin, additional, Tiemeier, Henning, additional, Tremoli, Elena, additional, van der Harst, Pim, additional, Vestergaard, Henrik, additional, Vollenweider, Peter, additional, Wareham, Nicholas J., additional, Weir, David R., additional, Whitfield, John B., additional, Wilson, James F., additional, Tyrrell, Jessica, additional, Frayling, Timothy M., additional, Barroso, Inês, additional, Boehnke, Michael, additional, Deloukas, Panagiotis, additional, Fox, Caroline S., additional, Hirschhorn, Joel N., additional, Hunter, David J., additional, Spector, Tim D., additional, Strachan, David P., additional, van Duijn, Cornelia M., additional, Heid, Iris M., additional, Mohlke, Karen L., additional, Marchini, Jonathan, additional, Loos, Ruth J. F., additional, Kilpeläinen, Tuomas O., additional, Liu, Ching-Ti, additional, Borecki, Ingrid B., additional, North, Kari E., additional, and Cupples, L Adrienne, additional
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- 2017
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42. Methods for Association Analysis and Meta-Analysis of Rare Variants in Families
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Feng, Shuang, Pistis, Giorgio, Zhang, He, Zawistowski, Matthew, Mulas, Antonella, Zoledziewska, Magdalena, Holmen, Oddgeir L., Busonero, Fabio, Sanna, Serena, Hveem, Kristian, Willer, Cristen, Cucca, Francesco, Liu, Dajiang J., and Abecasis, Gonçalo R.
- Subjects
Apolipoprotein C-III ,Genotype ,Models, Genetic ,Cholesterol, HDL ,Genetic Variation ,Lipase ,Article ,Cholesterol Ester Transfer Proteins ,Lipoprotein Lipase ,Phenotype ,Humans ,Computer Simulation ,Exome ,Family ,Genetic Association Studies ,Software - Abstract
Advances in exome sequencing and the development of exome genotyping arrays are enabling explorations of association between rare coding variants and complex traits. To ensure power for these rare variant analyses, a variety of association tests that group variants by gene or functional unit have been proposed. Here, we extend these tests to family-based studies. We develop family-based burden tests, variable frequency threshold tests and sequence kernel association tests. Through simulations, we compare the performance of different tests. We describe situations where family-based studies provide greater power than studies of unrelated individuals to detect rare variants associated with moderate to large changes in trait values. Broadly speaking, we find that when sample sizes are limited and only a modest fraction of all trait-associated variants can be identified, family samples are more powerful. Finally, we illustrate our approach by analyzing the relationship between coding variants and levels of high-density lipoprotein (HDL) cholesterol in 11,556 individuals from the HUNT and SardiNIA studies, demonstrating association for coding variants in the APOC3, CETP, LIPC, LIPG, and LPL genes and illustrating the value of family samples, meta-analysis, and gene-level tests. Our methods are implemented in freely available C++ code.
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- 2015
43. Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
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Durda, Peter, Ruderfer, Douglas, Jun, Goo, Zhang, Ji, Li, Yun, Lange, Leslie A., Lindgren, Cecilia, Gaulton, Kyle, Flannick, Jason, Locke, Adam, Peloso, Gina, Xue, Chenyi, Holmen, Oddgeir L., Turner, Emily H., Tang, Zheng-Zheng, Auer, Paul, Smith, Joshua D., Manning, Alisa, Li, Kuo-ping, Bizon, Chris, Rivas, Manuel A., Zhang, He, Kang, Hyun Min, Schmidt, Ellen M., Hu, Youna, Stahl, Eli A., Lange, Ethan M., Fuchsberger, Christian, Sim, Xueling, Gottesman, Omri, Duan, Qing, and Lu, Yingchang
- Subjects
lipids (amino acids, peptides, and proteins) - Abstract
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98th or
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- 2014
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44. A reference panel of 64,976 haplotypes for genotype imputation
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McCarthy, Shane, primary, Das, Sayantan, additional, Kretzschmar, Warren, additional, Delaneau, Olivier, additional, Wood, Andrew R., additional, Teumer, Alexander, additional, Kang, Hyun Min, additional, Fuchsberger, Christian, additional, Danecek, Petr, additional, Sharp, Kevin, additional, Luo, Yang, additional, Sidore, Carlo, additional, Kwong, Alan, additional, Timpson, Nicholas, additional, Koskinen, Seppo, additional, Vrieze, Scott, additional, Scott, Laura J., additional, Zhang, He, additional, Mahajan, Anubha, additional, Veldink, Jan, additional, Peters, Ulrike, additional, Pato, Carlos, additional, van Duijn, Cornelia M., additional, Gillies, Christopher E., additional, Gandin, Ilaria, additional, Mezzavilla, Massimo, additional, Gilly, Arthur, additional, Cocca, Massimiliano, additional, Traglia, Michela, additional, Angius, Andrea, additional, Barrett, Jeffrey, additional, Boomsma, Dorret I., additional, Branham, Kari, additional, Breen, Gerome, additional, Brummet, Chad, additional, Busonero, Fabio, additional, Campbell, Hariy, additional, Chan, Andrew, additional, Chen, Sai, additional, Chew, Emily, additional, Collins, Francis S., additional, Corbin, Laura, additional, Smith, George Davey, additional, Dedoussis, George, additional, Dorr, Marcus, additional, Farmaki, Aliki-Eleni, additional, Ferrucci, Luigi, additional, Forer, Lukas, additional, Fraser, Ross M., additional, Gabriel, Stacey, additional, Levy, Shawn, additional, Groop, Leif, additional, Harrison, Tabitha, additional, Hattersley, Andrew, additional, Holmen, Oddgeir L., additional, Hveem, Kristian, additional, Kretzler, Matthias, additional, Lee, James, additional, McGue, Matt, additional, Meitinger, Thomas, additional, Melzer, David, additional, Min, Josine, additional, Mohlke, Karen L., additional, Vincent, John, additional, Nauck, Matthias, additional, Nickerson, Deborah, additional, Palotie, Aarno, additional, Pato, Michele, additional, Pirastu, Nicola, additional, Mclnnis, Melvin, additional, Richards, Brent, additional, Sala, Cinzia, additional, Salomaa, Veikko, additional, Schlessinger, David, additional, Schoenheer, Sebastian, additional, Slagboom, P Eline, additional, Small, Kerrin, additional, Spector, Timothy, additional, Stambolian, Dwight, additional, Tuke, Marcus, additional, Tuomilehto, Jaakko, additional, Berg, Leonard Van den, additional, Van Rheenen, Wouter, additional, Volker, Uwe, additional, Wijmenga, Cisca, additional, Toniolo, Daniela, additional, Zeggini, Eleftheria, additional, Gasparini, Paolo, additional, Sampson, Matthew G., additional, Wilson, James F., additional, Frayling, Timothy, additional, Bakker, Paul de, additional, Swertz, Morris A., additional, McCarroll, Steven, additional, Kooperberg, Charles, additional, Dekker, Annelot, additional, Altshuler, David, additional, Wilier, Cristen, additional, Iacono, William, additional, Ripatti, Samuli, additional, Soranzo, Nicole, additional, Walter, Klaudia, additional, Swaroop, Anand, additional, Cucca, Francesco, additional, Anderson, Carl, additional, Boehnke, Michael, additional, McCarthy, Mark I., additional, Durbin, Richard, additional, Abecasis, Gonçalo, additional, and Marchini, Jonathan, additional
- Published
- 2015
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45. Impact of Sex on the Prognostic Value of High-Sensitivity Cardiac Troponin I in the General Population: The HUNT Study
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Omland, Torbjørn, primary, de Lemos, James A, primary, Holmen, Oddgeir L, primary, Dalen, Håvard, primary, Benth, Jūratė Šaltytė, primary, Nygård, Ståle, primary, Hveem, Kristian, primary, and Røsjø, Helge, primary
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- 2015
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46. Methods for Association Analysis and Meta-Analysis of Rare Variants in Families
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Feng, Shuang, primary, Pistis, Giorgio, additional, Zhang, He, additional, Zawistowski, Matthew, additional, Mulas, Antonella, additional, Zoledziewska, Magdalena, additional, Holmen, Oddgeir L., additional, Busonero, Fabio, additional, Sanna, Serena, additional, Hveem, Kristian, additional, Willer, Cristen, additional, Cucca, Francesco, additional, Liu, Dajiang J., additional, and Abecasis, Gonçalo R., additional
- Published
- 2015
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47. Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk
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Holmen, Oddgeir L, primary, Zhang, He, additional, Fan, Yanbo, additional, Hovelson, Daniel H, additional, Schmidt, Ellen M, additional, Zhou, Wei, additional, Guo, Yanhong, additional, Zhang, Ji, additional, Langhammer, Arnulf, additional, Løchen, Maja-Lisa, additional, Ganesh, Santhi K, additional, Vatten, Lars, additional, Skorpen, Frank, additional, Dalen, Håvard, additional, Zhang, Jifeng, additional, Pennathur, Subramaniam, additional, Chen, Jin, additional, Platou, Carl, additional, Mathiesen, Ellisiv B, additional, Wilsgaard, Tom, additional, Njølstad, Inger, additional, Boehnke, Michael, additional, Chen, Y Eugene, additional, Abecasis, Gonçalo R, additional, Hveem, Kristian, additional, and Willer, Cristen J, additional
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- 2014
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48. Hypertension after preeclampsia and relation to the C1114G polymorphism (rs4606) in RGS2: data from the Norwegian HUNT2 study
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Kvehaugen, Anne Stine, primary, Melien, Øyvind, additional, Holmen, Oddgeir L, additional, Laivuori, Hannele, additional, Dechend, Ralf, additional, and Staff, Anne Cathrine, additional
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- 2014
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49. Exome-wide association study of plasma lipids in >300,000 individuals
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Liu, Dajiang J, Peloso, Gina M, Yu, Haojie, Butterworth, Adam S, Wang, Xiao, Mahajan, Anubha, Saleheen, Danish, Emdin, Connor, Alam, Dewan, Alves, Alexessander Couto, Amouyel, Philippe, Di Angelantonio, Emanuele, Arveiler, Dominique, Assimes, Themistocles L, Auer, Paul L, Baber, Usman, Ballantyne, Christie M, Bang, Lia E, Benn, Marianne, Bis, Joshua C, Boehnke, Michael, Boerwinkle, Eric, Bork-Jensen, Jette, Bottinger, Erwin P, Brandslund, Ivan, Brown, Morris, Busonero, Fabio, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Chen, Y Eugene, Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Connell, John M, Cucca, Francesco, Cupples, L Adrienne, Damrauer, Scott M, Davies, Gail, Deary, Ian J, Dedoussis, George, Denny, Joshua C, Dominiczak, Anna, Dubé, Marie-Pierre, Ebeling, Tapani, Eiriksdottir, Gudny, Esko, Tõnu, Farmaki, Aliki-Eleni, Feitosa, Mary F, Ferrario, Marco, Ferrieres, Jean, Ford, Ian, Fornage, Myriam, Franks, Paul W, Frayling, Timothy M, Frikke-Schmidt, Ruth, Fritsche, Lars G, Frossard, Philippe, Fuster, Valentin, Ganesh, Santhi K, Gao, Wei, Garcia, Melissa E, Gieger, Christian, Giulianini, Franco, Goodarzi, Mark O, Grallert, Harald, Grarup, Niels, Groop, Leif, Grove, Megan L, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B, Hayward, Caroline, Hirschhorn, Joel N, Holmen, Oddgeir L, Huffman, Jennifer, Huo, Yong, Hveem, Kristian, Jabeen, Sehrish, Jackson, Anne U, Jakobsdottir, Johanna, Jarvelin, Marjo-Riitta, Jensen, Gorm B, Jørgensen, Marit E, Jukema, J Wouter, Justesen, Johanne M, Kamstrup, Pia R, Kanoni, Stavroula, Karpe, Fredrik, Kee, Frank, Khera, Amit V, Klarin, Derek, Koistinen, Heikki A, Kooner, Jaspal S, Kooperberg, Charles, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Langenberg, Claudia, Langsted, Anne, Launer, Lenore J, Lauritzen, Torsten, Liewald, David C M, Lin, Li An, Linneberg, Allan, Loos, Ruth J F, Lu, Yingchang, Lu, Xiangfeng, Mägi, Reedik, Malarstig, Anders, Manichaikul, Ani, Manning, Alisa K, Mäntyselkä, Pekka, Marouli, Eirini, Masca, Nicholas G D, Maschio, Andrea, Meigs, James B, Melander, Olle, Metspalu, Andres, Morris, Andrew P, Morrison, Alanna C, Mulas, Antonella, Müller-Nurasyid, Martina, Munroe, Patricia B, Neville, Matt J, Nielsen, Jonas B, Nielsen, Sune F, Nordestgaard, Børge G, Ordovas, Jose M, Mehran, Roxana, O'Donnell, Christoper J, Orho-Melander, Marju, Molony, Cliona M, Muntendam, Pieter, Padmanabhan, Sandosh, Palmer, Colin N A, Pasko, Dorota, Patel, Aniruddh P, Pedersen, Oluf, Perola, Markus, Peters, Annette, Pisinger, Charlotta, Pistis, Giorgio, Polasek, Ozren, Poulter, Neil, Psaty, Bruce M, Rader, Daniel J, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F, Reiner, Alex P, Renström, Frida, Rich, Stephen S, Ridker, Paul M, Rioux, John D, Robertson, Neil R, Roden, Dan M, Rotter, Jerome I, Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J, Sanna, Serena, Sattar, Naveed, Schmidt, Ellen M, Scott, Robert A, Sever, Peter, Sevilla, Raquel S, Shaffer, Christian M, Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S, Smith, Albert V, Smith, Blair H, Somayajula, Sangeetha, Southam, Lorraine, Spector, Timothy D, Speliotes, Elizabeth K, Starr, John M, Stirrups, Kathleen E, Stitziel, Nathan, Strauch, Konstantin, Stringham, Heather M, Surendran, Praveen, Tada, Hayato, Tall, Alan R, Tang, Hua, Tardif, Jean-Claude, Taylor, Kent D, Trompet, Stella, Tsao, Philip S, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, van Zuydam, Natalie R, Varbo, Anette, Varga, Tibor V, Virtamo, Jarmo, Waldenberger, Melanie, Wang, Nan, Wareham, Nick J, Warren, Helen R, Weeke, Peter E, Weinstock, Joshua, Wessel, Jennifer, Wilson, James G, Wilson, Peter W F, Xu, Ming, Yaghootkar, Hanieh, Young, Robin, Zeggini, Eleftheria, Zhang, He, Zheng, Neil S, Zhang, Weihua, Zhang, Yan, Zhou, Wei, Zhou, Yanhua, Zoledziewska, Magdalena, Howson, Joanna M M, Danesh, John, McCarthy, Mark I, Cowan, Chad A, Abecasis, Goncalo, Deloukas, Panos, Musunuru, Kiran, Willer, Cristen J, and Kathiresan, Sekar
- Abstract
We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.
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- 2017
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50. Meta-analysis of gene-level tests for rare variant association
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Liu, Dajiang J, primary, Peloso, Gina M, additional, Zhan, Xiaowei, additional, Holmen, Oddgeir L, additional, Zawistowski, Matthew, additional, Feng, Shuang, additional, Nikpay, Majid, additional, Auer, Paul L, additional, Goel, Anuj, additional, Zhang, He, additional, Peters, Ulrike, additional, Farrall, Martin, additional, Orho-Melander, Marju, additional, Kooperberg, Charles, additional, McPherson, Ruth, additional, Watkins, Hugh, additional, Willer, Cristen J, additional, Hveem, Kristian, additional, Melander, Olle, additional, Kathiresan, Sekar, additional, and Abecasis, Gonçalo R, additional
- Published
- 2013
- Full Text
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