• Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease 

      Nielsen, Jonas Bille; Rom, Oren; Surakka, Ida; Graham, Sarah E.; Zhou, Wei; Roychowdhury, Tanmoy; Fritsche, Lars; Gagliano Taliun, Sarah; Sidore, Carlo; Liu, Yuhao; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Wolford, Brooke; Overton, William; Zhao, Ying; Chen, Jin; Zhang, He; Hornsby, Whitney E.; Acheampong, Akua; Grooms, Austen; Schaefer, Amanda; Zajac, Gregory J.M.; Villacorta, Luis; Zhang, Jifeng; Brumpton, Ben Michael; Løset, Mari; Rai, Vivek; Lundegaard, Pia R.; Olesen, Morten S.; Taylor, Kent D.; Palmer, Nicholette D.; Chen, Yii-Der; Choi, Seung Hoan; 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; Holmen, Oddgeir Lingaas; Åsvold, Bjørn Olav; Willer, Christen; Hveem, Kristian (Peer reviewed; Journal article, 2020)
      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 ...
    • Mendelian randomization study of maternal influences on birthweight and future cardiometabolic risk in the HUNT cohort 

      Moen, Gunn-Helen; Brumpton, Ben Michael; Willer, Cristen J.; Åsvold, Bjørn Olav; Birkeland, Kåre I.; Wang, Geng; Neale, Michael C.; Freathy, Rachel M.; Smith, George Davey; Lawlor, Debbie A.; Kirkpatrick, Robert M.; Warrington, Nicole Maree; Evans, David M. (Peer reviewed; Journal article, 2020)
      There is a robust observational relationship between lower birthweight and higher risk of cardiometabolic disease in later life. The Developmental Origins of Health and Disease (DOHaD) hypothesis posits that adverse ...
    • 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 ...
    • Model-based assessment of replicability for genome-wide association meta-analysis 

      McGuire, Daniel; Jiang, Yu; Liu, Mengzhen; Weissenkampen, J. Dylan; Eckert, Scott; Yang, Lina; Chen, Fang; Liu, MengZhen; Wedow, Robbee; Li, Yue; Brazel, David M.; Datta, Gargi; Davila-Velderrain, Jose; Tian, Chao; Zhan, Xiaowei; Choquet, H. éléne; 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; Ma ̈gi, Reedik; Matoba, Nana; McMahon, George; Mulas, Antonella; Orru, Valeria; Palviainen, Teemu; Pandit, Anita; Reginsson, Gunnar W.; Skogholt, Anne Heidi; Smith, Jennifer A.; Taylor, Amy E.; Turman, Constance; Willemsen, Gonneke; Young, Hannah; Young, Kendra A.; Zajac, Gregory J. M.; Zhao, Wei; Zhou, Wei; Bjornsdottir, Gyda; Boardman, Jason D.; Boehnke, Michael; Boomsma, Dorret I.; Chen, Chu; Cucca, Francesco; Davies, Gareth E.; Eaton, Charles B.; Ehringer, Marissa A.; Esko, Tõnu; Fiorillo, Edoardo; Gillespie, Nathan A.; Gudbjartsson, Daniel F.; Haller, Toomas; Harris, Kathleen Mullan; Heath, Andrew C.; Hewitt, John K.; Hickie, Ian B.; Hokanson, John E.; Hopfer, Christian J.; Hunter, David J.; Iacono, William G.; Johnson, Eric O.; Kamatani, Yoichiro; Kardia, Sharon L. R.; Keller, Matthew C.; Kellis, Manolis; Kooperberg, Charles; Kraft, Peter; Krauter, Kenneth S.; Laakso, Markku; Lind, Penelope A.; Loukola, Anu; Lutz, Sharon M.; Madden, Pamela A. F.; Martin, Nicholas G.; McGue, Matt; McQueen, Matthew B.; Medland, Sarah E.; Metspalu, Andres; Mohlke, Karen L.; Nielsen, Jonas B.; Okada, Yukinori; Peters, Ulrike; Polderman, Tinca J. C.; Posthuma, Danielle; Reiner, Alexander P.; Rice, JP; Rimm, Eric; Rose, Richard J.; Runarsdottir, Valgerdur; Stallings, Michael C.; Stanˇca ́kova, Alena; Stefansson, Hreinn; Thai, Khanh K.; Tindle, Hilary A.; Tyrfingsson, Thorarinn; Wall, Tamara L.; Weir, David R.; Weisner, Constance M; Whitfield, John B.; Winsvold, Bendik K S; Yin, Jie; Zuccolo, Luisa; Bierut, Laura J.; Hveem, Kristian; Lee, James J.; Munafo, Marcus R.; Saccone, Nancy L.; Willer, Cristen J; Cornelis, Marilyn C.; David, Sean P.; Hinds, David; Jorgenson, Eric; Kaprio, Jaakko; Stitzel, Jerry A.; Stefansson, Kari; Thorgeirsson, Thorgeir E.; Abecasis, Goncalo; Liu, Dajiang J.; Vrieze, Scott; Berg, Arthur; Jiang, Bibo; Li, Qunhua (Peer reviewed; Journal article, 2021)
      Genome-wide association meta-analysis (GWAMA) is an effective approach to enlarge sample sizes and empower the discovery of novel associations between genotype and phenotype. Independent replication has been used as a ...
    • 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 ...
    • Quantifying the causal impact of biological risk factors on healthcare costs 

      Lee, Jiwoo; Jukarainen, Sakari; Karvanen, Antti; Dixon, Padraig; Davies, Neil Martin; Smith, George Davey; Natarajan, Pradeep; Ganna, Andrea (Peer reviewed; Journal article, 2023)
      Understanding the causal impact that clinical risk factors have on healthcare-related costs is critical to evaluate healthcare interventions. Here, we used a genetically-informed design, Mendelian Randomization (MR), to ...
    • Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis 

      Graham, Sarah E.; Nielsen, Jonas B.; Zawistowski, Matthew; Zhou, Wei; Fritsche, Lars G.; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Surakka, Ida; Hornsby, Whitney E.; Fermin, Damian; Larach, Daniel B.; Kheterpal, Sachin; Brummett, Chad M.; Lee, Seunggeun; Kang, Hyun Min; Abecasis, Goncalo; Romundstad, Solfrid; Hallan, Stein; Sampson, Matthew G.; Hveem, Kristian; Willer, Cristen J. (Journal article; Peer reviewed, 2019)
      Chronic kidney disease (CKD) is a growing health burden currently affecting 10–15% of adults worldwide. Estimated glomerular filtration rate (eGFR) as a marker of kidney function is commonly used to diagnose CKD. We analyze ...
    • X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements 

      Scholz, Markus; Horn, Katrin; pott, janne; Wuttke, Matthias; Hallan, Stein Ivar; Schlosser, Pascal; Pattaro, Cristian; Åsvold, Bjørn Olav; Brumpton, Ben Michael; Hveem, Kristian; Thomas, Laurent Francois; Rasheed, Humaira (Peer reviewed; Journal article, 2024)
      X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis ...