• Age-of-onset information helps identify 76 genetic variants associated with allergic disease 

      Ferreira, Manuel A R; Vonk, Judith M.; Baurecht, Hansjörg; Marenholz, Ingo; Tian, Chao; Hoffman, Joshua D.; Helmer, Quinta; Tillander, Annika; Ullemar, Vilhelmina; Lu, Yi; Grosche, Sarah; Ruschendorf, Franz; Granell, Raquel; Brumpton, Ben Michael; Fritsche, Lars; Bhatta, Laxmi; Gabrielsen, Maiken Elvestad; Nielsen, Jonas Bille; Zhou, Wei; Hveem, Kristian; Langhammer, Arnulf; Holmen, Oddgeir; Løset, Mari; Abecasis, Goncalo; Willer, Cristen J.; Emami, Nima C.; Cavazos, Taylor B.; Witte, John S.; Szwajda, Agnieszka; 23andMe Research Team, ,; collaborators of SHARE study, ,; Hinds, David A.; Hubner, Norbert; Weidinger, Stephan; Magnusson, Patrik KE; Jorgenson, Eric; Karlsson, Robert; Paternoster, Lavinia; Boomsma, Dorret I.; Almqvist, Catarina; Lee, Young-Ae; Koppelman, Gerard H.; Esparza-Gordillo, Jorge; Hummel, Oliver; Hottenga, Jouke-Jan; Willemsen, Gonneke; Rodríguez, Elke; Hotze, Melanie; Franke, Andre; Matheson, Melanie C.; Dharmage, Shyamali Chandrika; 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 (Peer reviewed; Journal article, 2020)
      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 ...
    • Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use 

      Liu, Ming; Jiang, Yu; Wedow, Robbee; Li, Yue; Brazel, David M.; Chen, Fang; Datta, Gargi; Davila-Velderrain, Jose; Mitchell, Amy; Skogholt, Anne Heidi; Sivertsen, Børge; Stordal, Eystein; Morken, Gunnar; Kallestad, Håvard; Heuch, Ingrid; Zwart, John-Anker; Fjukstad, Katrine Kveli; Pedersen, Linda Margareth; Johnsen, Marianne Bakke; Skrove, Marit Synnøve; Indredavik, Marit Sæbø; Drange, Ole Kristian; Bjerkeset, Ottar; Børte, Sigrid; Stensland, Synne; Choquet, Hélène; Docherty, Anna R.; Faul, Jessica D.; Foerster, Johanna R.; Fritsche, Lars; Gabrielsen, Maiken Elvestad; Gordon, Scott D.; Haessler, Jeffrey; Hottenga, Jouke-Jan; Huang, Hongyan; Jang, Seon-Kyeong; Jansen, Philip R.; Ling, Yueh; Mägi, Reedik; Matoba, Nana; McMahon, George; Mulas, Antonella; Orrú, Valeria; Palviainen, Teemu; Pandit, Anita; Reginsson, Gunnar W.; Smith, Jennifer A.; Taylor, Amy E.; Turman, Constance; Willemsen, Gonneke; Young, Hannah; Young, Kendra A.; Zajac, Gregory J.M.; Zhao, Wei; Zhou, Wei; Björnsdóttir, Gyda Thora; Boardman, Jason D.; Boehnke, Michael; Boomsma, Dorret I.; Chen, Chu; Davies, Gareth E.; Eaton, Charles B.; Winsvold, Bendik K S; Hveem, Kristian; Vrieze, Scott (Journal article; Peer reviewed, 2019)
      Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery ...
    • Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes 

      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, Daníel Fannar; 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; Steinthorsdóttir, Valgerdur; Sulem, Patrick; Thorsteinsdóttir, 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 Lingaas; 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 Ida; Hveem, Kristian; Wareham, Nicholas J.; Kathiresan, Sekar; Melander, Olle; Stefansson, Kari; Nordestgaard, Børge G.; Tybjærg-Hansen, Anne; Abecasis, Goncalo; Altshuler, David; Florez, Jose C.; Boehnke, Michael; McCarthy, Mark I.; Yancopoulos, George D.; Carey, David J.; Shuldiner, Alan R.; Baras, Aris; Dewey, Frederick E.; Gromada, Jesper (Journal article; Peer reviewed, 2018)
      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 ...
    • Genome-wide analysis yields new loci associating with aortic valve stenosis 

      Helgadottir, Anna; Thorleifsson, Gudmar; Gretarsdottir, Solveig; Stefansson, Olafur A.; Tragante, Vinicius; Thorolfsdottir, Rosa B.; Jonsdottir, Ingileif; Bjornsson, Thorsteinn; Steinthorsdottir, Valgerdur; Verweij, Niek; Nielsen, Jonas B.; Zhou, Wei; Folkersen, Lasse; Martinsson, Andreas; Heydarpour, Mahyar; Prakash, Siddharth; Oskarsson, Gylfi; Gudbjartsson, Tomas; Geirsson, Arnar; Olafsson, Isleifur; Sigurdsson, Emil L.; Almgren, Peter; Melander, Olle; Franco-Cereceda, Anders; Hamsten, Anders; Fritsche, Lars; Lin, Maoxuan; Yang, Bo; Hornsby, Whitney; Guo, Dongchuan; Brummett, Chad M.; Abecasis, Goncalo; Mathis, Michael; Milewicz, Dianna; Body, Simon C.; Eriksson, Per; Willer, Cristen J.; Hveem, Kristian; Newton-Cheh, Christopher; Smith, J. Gustav; Danielsen, Ragnar; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel F.; Holm, Hilma; Stefansson, Kari (Journal article; Peer reviewed, 2018)
      Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 ...
    • Geographic distribution of rare variants associated with age-related macular degeneration 

      Geerlings, Maartje J; Kersten, Eveline; Groenewoud, Joannes M M; Fritsche, Lars; Hoyng, Carel B; De Jong, Eiko; Den Hollander, Anneke I. (Journal article; Peer reviewed, 2018)
      PURPOSE: A recent genome-wide association study by the International Age-related Macular Degeneration Genomics Consortium (IAMDGC) identified seven rare variants that are individually associated with age-related macular ...
    • GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer 

      Zhou, Wei; Brumpton, Ben Michael; Kabil, Omer; Gudmundsson, Julius; Thorleifsson, Gudmar; Weinstock, Joshua; Zawistowski, Matthew; Nielsen, Jonas Bille; Chaker, Layal; Medici, Marco; Teumer, Alexander; Naitza, Silvia; Sanna, Serena; Schultheiss, Ulla T.; Cappola, Anne R.; Karjalainen, Juha; Kurki, Mitja I.; Oneka, Morgan; Taylor, Peter; Fritsche, Lars; Graham, Sarah E.; Wolford, Brooke N.; Overton, William; Rasheed, Humaira; Bordal, Eirin Haug; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Surakka, Ida; Davey Smith, George; Pandit, Anita; Roychowdhury, Tanmoy; Hornsby, Whitney; Jonasson, Jon G.; Senter, Leigha; Liyanarachchi, Sandya; Ringel, Matthew D.; Xu, Li; Kiemeney, Lambertus A.; He, Huiling; Netea-Maier, Romana; Mayordomo, Jose; Plantinga, Theo S.; Hrafnkelsson, Jon; Hjartarson, Hannes; Sturgis, Erich M.; Palotie, Aarno; Daly, Mark J.; Citterio, Cintia E.; Arvan, Peter; Brummett, Chad M.; Boehnke, Michael; de la Chapelle, Albert; Stefansson, Kari; Hveem, Kristian; Willer, Cristen J.; Åsvold, Bjørn Olav (Peer reviewed; Journal article, 2020)
      Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers in up to ...
    • MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk 

      Surakka, Ida; Fritsche, Lars; Zhou, Wei; Backman, Joshua; Kosmicki, Jack A.; Lu, Haocheng; Brumpton, Ben Michael; Nielsen, Jonas B.; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Wolford, Brooke N.; Graham, Sarah E.; Chen, Y. Eugene; Lee, Seunggeun; Kang, Hyun Min; Langhammer, Arnulf; Forsmo, Siri; Åsvold, Bjørn Olav; Styrkarsdottir, Unnur; Holm, Hilma; Gudbjartsson, Daniel F.; Stefansson, Kari; Baras, Aris; Bai, Xiaodong; Balasubramanian, Suganthi; Barnard, Leland; Blumenfeld, Andrew; Cantor, Michael; Coppola, Giovanni; Economides, Aris; Eom, Gisu; Habegger, Lukas; Hahn, Young; Hawes, Alicia; Jones, Marcus B.; Khalid, Shareef; Lotta, Luca A.; Maxwell, Evan K.; Mitnaul, Lyndon J.; Overton, John D.; Reid, Jeffrey G.; Ferreira, Manuel Allen Revez; Salerno, William; Sharma, Deepika; Shuldiner, Alan R.; Staples, Jeffrey C.; Yadav, Ashish; Abecasis, Goncalo R.; Hveem, Kristian; Willer, Cristen J. (Peer reviewed; Journal article, 2020)
      A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the ...
    • Prediction of Ankylosing Spondylitis in the HUNT Study by a Genetic Risk Score Combining 110 Single-nucleotide Polymorphisms of Genome-wide Significance 

      Rostami, Sina; Hoff, Mari; Brown, Matthew A.; Hveem, Kristian; Holmen, Oddgeir; Fritsche, Lars; Videm, Vibeke (Journal article; Peer reviewed, 2019)
      Objective The genetic component of ankylosing spondylitis (AS) development is ~90%. Of the known heritability, ~20% is explained by HLA-B27, and 113 identified AS-associated single-nucleotide polymorphisms (SNP) account ...
    • Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve 

      Yang, Bo; Zhou, Wei; Jiao, Jiao; Nielsen, Jonas Bille; Mathis, Michael R; Heydarpour, Mahyar; Lettre, Guillaume; Folkersen, Lasse; Prakash, Siddharth; Schurmann, Claudia; Fritsche, Lars; Farnum, Gregory A; Lin, Maoxuan; Othman, Mohamed; Hornsby, Whitney; Driscoll, Anisa; Levasseur, Alexandra; Thomas, Marc; Farhat, Linda; Dube, Marie-Pierre; Isselbacher, Eric M.; Franco-Cereceda, Anders; Guo, Dong-Chuan; Bottinger, Erwin P; Deeb, G Michael; Booher, Anna; Kheterpal, Sachin; Chen, Y. Eugene; Kang, Hyun Min; Kitzman, Jacob; Cordell, Heather J.; Keavney, Bernard D; Goodship, Judith A; Ganesh, Santhi K; Abecasis, Goncalo; Eagle, Kim A.; Boyle, Alan P; Loos, Ruth J. F.; Eriksson, Per; Tardif, Jean-Claude; Brummett, Chad M; Milewicz, Dianna M; Body, Simon C; Willer, Cristen J (Journal article; Peer reviewed, 2017)
      Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ...
    • Variation in serum PCSK9 (proprotein convertase subtilisin/kexin type 9), cardiovascular disease risk, and an investigation of potential unanticipated effects of PCSK9 inhibition 

      Brumpton, Ben Michael; Fritsche, Lars; Zheng, Jie; Nielsen, Jonas Bille; Mannila, Maria Nastase; Surakka, Ida; Rasheed, Humaira; Vie, Gunnhild Åberge; Graham, Sarah E.; Gabrielsen, Maiken Elvestad; Laugsand, Lars Erik; Aukrust, Pål; Vatten, Lars Johan; Damås, Jan Kristian; Ueland, Thor; Janszky, Imre; Zwart, John-Anker; van't Hooft, Ferdinand M.; Seidah, Nabil Georges; Hveem, Kristian; Willer, Cristen; Smith, George Davey; Åsvold, Bjørn Olav (Peer reviewed; Journal article, 2019)
      PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitors reduce serum LDL (low-density lipoprotein) cholesterol (LDL-C) by increasing uptake in the liver. Although some long-term trials have evaluated their safety, ...