• Increased levels of microRNA-320 in blood serum and plasma is associated with imminent and advanced lung cancer 

      Nøst, Therese Haugdahl; Skogholt, Anne Heidi; Urbarova, Ilona Halva; Mjelle, Robin; Paulsen, Erna-Elise; Dønnem, Tom; Andersen, Sigve; Markaki, Maria; Røe, Oluf Dimitri; Johansson, Mikael; Johansson, Mattias; Grønberg, Bjørn Henning; Sandanger, Torkjel M; Sætrom, Pål (Peer reviewed; Journal article, 2022)
      Lung cancer (LC) incidence is increasing globally and altered levels of microRNAs (miRNAs) in blood may contribute to identification of individuals with LC. We identified miRNAs differentially expressed in peripheral blood ...
    • 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 ...
    • 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 ...
    • Mitochondrial genome-wide association study of migraine – the HUNT Study 

      Børte, Sigrid; Zwart, John-Anker; Skogholt, Anne Heidi; Gabrielsen, Maiken Elvestad; Thomas, Laurent; Fritsche, Lars G; Surakke, Ida; Nielsen, Jonas B.; Zhou, Wei; Wolford, Brooke; Vigeland, Magnus Dehli; Hagen, Knut; Kristoffersen, Espen Saxhaug; Nyholt, Dale R; Chasman, Daniel I; Brumpton, Ben Michael; Willer, Christen; Winsvold, Bendik K S (Peer reviewed; Journal article, 2020)
      Background Variation in mitochondrial DNA (mtDNA) has been indicated in migraine pathogenesis, but genetic studies to date have focused on candidate variants, with sparse findings. We aimed to perform the first mitochondrial ...
    • 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 ...
    • Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries 

      Surakka, Ida; Wu, Kuan-Han; Hornsby, Whitney; Wolford, Brooke N.; Shen, Fred; Zhou, Wei; Huffman, Jennifer E.; Pandit, Anita; Hu, Yao; Brumpton, Ben Michael; Skogholt, Anne Heidi; Gabrielsen, Maiken Elvestad; Walters, Robin G.; Hveem, Kristian; Kooperberg, Charles; Zöllner, Sebastian; Wilson, Peter W.F.; Sutton, Nadia R.; Daly, Mark J.; Neale, Benjamin M.; Willer, Cristen J. (Peer reviewed; Journal article, 2023)
      Stroke is the second leading cause of death and disability worldwide. Stroke prevalence varies by sex and ancestry, possibly due to genetic heterogeneity between subgroups. We performed a genome-wide meta-analysis of 16 ...
    • 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 ...
    • The rare Arg181Cys mutation in the μ opioid receptor can abolish opioid responses 

      Skorpen, Frank; von Hofacker, Sebastian; Bjørngaard, Mads; Skogholt, Anne Heidi; Dale, Ola; Kaasa, Stein; Klepstad, Pål (Journal article; Peer reviewed, 2016)
      BACKGROUND: Genetic variability contributes to variable clinical response to opioids. This study emerged from the observation of three Norwegian patients who showed no or extraordinary poor response to very high doses of ...
    • Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independently of body mass index 

      Hartley, April; Sanderson, Eleanor; Granell, Raquel; Paternoster, Lavinia; Zheng, Jie; Smith, George Davey; Southam, Lorraine; Hatzikotoulas, Konstantinos; Boer, Cindy G.; Van Meurs, Joyce; Zeggini, Eleftheria; Gregson, Celia L.; Tobias, Jon H.; Stefánsdóttir, Lilja; Zhang, Yanfei; De Almeida, Rodrigo Coutinho; Wu, Tian T.; Teder-Laving, Maris; Skogholt, Anne Heidi; Terao, Chikashi; Zengini, Eleni; Alexiadis, George; Barysenka, Andrei; Bjornsdottir, Gyda; Gabrielsen, Maiken Elvestad; Gilly, Arthur; Ingvarsson, Thorvaldur; Johnsen, Marianne Bakke; Jonsson, Helgi Freyr; Kloppenburg, Margreet G.; Luetge, Almut; Mägi, Reedik; Mangino, Massimo; Nelissen, Rob R.G.H.H.; Shivakumar, Manu; Steinberg, Julia; Takuwa, Hiroshi; Thomas, Laurent; Tuerlings, Margo; Babis, George; Cheung, Jason Pui Yin; Samartzis, Dino; Lietman, Steve A.; Slagboom, P. Eline; Stefansson, Kari; Uitterlinden, André G.; Winsvold, Bendik K S; Zwart, John Anker Henrik; Sham, Pak Chung; Thorleifsson, Gudmar; Gaunt, Tom R.; Morris, Andrew P.; Valdes, Ana M.; Tsezou, Aspasia; Cheah, Kathryn S.E.; Ikegawa, Shiro; Hveem, Kristian; Esko, Tõnu; Wilkinson, J. Mark; Meulenbelt, Ingrid; Michael Lee, Ming Ta; Styrkársdóttir, Unnur (Peer reviewed; Journal article, 2022)
      Objectives Observational analyses suggest that high bone mineral density (BMD) is a risk factor for osteoarthritis (OA); it is unclear whether this represents a causal effect or shared aetiology and whether these ...