• 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 ...
    • Biological and Clinical Insights From Genetics of Insomnia Symptoms 

      Lane, Jacqueline M.; Jones, Samuel E.; Skogholt, Anne Heidi; Gabrielsen, Maiken Elvestad; Hveem, Kristian; Brumpton, Ben Michael; Zwart, John-Anker; Nielsen, Jonas Bille; Winswold, Bendik; Willer, Cristen J; Janszky, Imre; Johnsen, Marianne Bakke; Wood, Andrew R.; Strand, Linn B.; Bowden, Jack; Song, Yanwei; Patel, Krunal; Anderson, Simon G.; Beaumont, Robin N.; Bechtold, David A.; Cade, Brian E.; Kathiresan, Sekar; Little, Max A.; Loudon, Andrew S.; Purcell, Shaun; Richmond, Rebecca C.; Schormair, Barbara; Tyrrell, Jessica; Winkelmann, Juliane; Zhao, Cheng; Redline, Susan; Spiegelhalder, Kai; Kyle, Simon D.; Frayling, Timothy M.; Lawlor, Deborah A.; Rutter, Martin K.; Weedon, Michael N.; Saxena, Richa (Journal article; Peer reviewed, 2019)
      Insomnia is a common disorder linked with adverse long-term medical and psychiatric outcomes. The underlying pathophysiological processes and causal relationships of insomnia with disease are poorly understood. Here we ...
    • Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations 

      Boer, Cindy G.; Hatzikotoulas, Konstantinos; Southam, Lorraine; Stefánsdóttir, Lilja; Almeida, Rodrigo Coutinho de; Zhang, Yanfei; Wu, Tian T.; Zheng, Jie; Hartley, April; 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; Kloppenburg, Margreet; Luetge, Almut; Lund, Sigrun H; Magi, Reedik; Mangino, Massimo; Nelissen, Rob G.H.H.; Shivakumar, Manu; Steinberg, Julia; Takuwa, Hiroshi; Thomas, Laurent; Tuerlings, Margo; Babis, George C.; Cheung, Jason Pui Yin; Kang, Jae Hee; Kraft, Peter; Lietman, Steven A.; Samartzis, Dino; Slagboom, P. Eline; Stefansson, Kari; Thorsteinsdottir, Unnur; Tobias, Jonathan H.; Uitterlinden, André G.; Winsvold, Bendik K S; Zwart, John Anker Henrik; Smith, George Davey; Sham, Pak Chung; Thorleifsson, Gudmar; Hveem, Kristian; Zeggini, Eleftheria (Peer reviewed; Journal article, 2021)
      Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated ...
    • Development and validation of a prediction model for incident hand osteoarthritis in the HUNT study 

      Johnsen, Marianne Bakke; Magnusson, Karin; Børte, Sigrid; Gabrielsen, Maiken Elvestad; Winsvold, Bendik K S; Skogholt, Anne Heidi; Thomas, Laurent; Storheim, Kjersti; Hveem, Kristian; Zwart, John-Anker (Peer reviewed; Journal article, 2020)
      Objective To develop and externally validate prediction models for incident hand osteoarthritis (OA) in a large population-based cohort of middle aged and older men and women. Design We included 17,153 men and 18,682 ...
    • Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools 

      Bahrami, Shahram; Hindley, Guy Frederick Lanyon; Winsvold, Bendik K S; O'Connell, Kevin S; Frei, Oleksandr; Shadrin, Alexey; Cheng, Weiqiu; Bettella, Francesco; Rødevand, Linn; Ødegaard, Ketil Joachim; Fan, Chun C; Pirinen, Matti J; Hautakangas, Heidi M; Martinsen, Amy; Skogholt, Anne Heidi; Brumpton, Ben Michael; Willer, Cristen J; Tronvik, Erling Andreas; Kristoffersen, Espen Saxhaug; Zwart, John Anker Henrik; Nielsen, Jonas Bille; Hagen, Knut; Nilsen, Kristian Bernhard; Hveem, Kristian; Stovner, Lars Jacob; Fritsche, Lars; Thomas, Laurent; Pedersen, Linda Margareth; Gabrielsen, Maiken Elvestad; Johnsen, Marianne Bakke; Lie, Marie; Holmen, Oddgeir Lingaas; Børte, Sigrid; Stensland, Synne; Zhou, Wei; Dale, Anders; Djurovic, Srdjan; Smeland, Olav Bjerkehagen; Andreassen, Ole (Peer reviewed; Journal article, 2022)
      Migraine is three times more prevalent in people with bipolar disorder or depression. The relationship between schizophrenia and migraine is less certain although glutamatergic and serotonergic neurotransmission are ...
    • Gene expression differences between PAXgene and Tempus blood RNA tubes are highly reproducible between independent samples and biobanks 

      Skogholt, Anne Heidi; Ryeng, Einar; Erlandsen, Sten Even; Skorpen, Frank; Arentz Schønberg, Svanhild Margrethe; Sætrom, Pål (Journal article; Peer reviewed, 2017)
      Background Gene expression profiling from blood is sensitive to technology choices. For example, the main blood RNA collection systems—the PAXgene and Tempus tubes—differently influence RNA expression signatures. The aim ...
    • Genome-wide analysis identifies impaired axonogenesis in chronic overlapping pain conditions 

      Khoury, Samar; Parisien, Marc; Thompson, Scott J.; Vachon-Presseau, Etienne; Roy, Mathieu; Mitchell, Amy; Winsvold, Bendik K S; Skogholt, Anne Heidi; Brumpton, Ben Michael; Willer, Cristen J.; Fors, Egil Andreas; Heuch, Ingrid; Nielsen, Jonas Bille; Storheim, Kjersti; Hagen, Knut; Nilsen, Kristian Bernhard; Hveem, Kristian; Fritsche, Lars; Thomas, Laurent; Pedersen, Linda Margareth; Gabrielsen, Maiken Elvestad; Johnsen, Marianne Bakke; Lie, Marie; Holmen, Oddgeir; Børte, Sigrid; Stensland, Synne; Zhou, Wei; Mundal, Ingunn Pernille; Zwart, John Anker Henrik; Kania, Artur; Mogil, Jeffrey S.; Diatchenko, Luda (Peer reviewed; Journal article, 2021)
      Chronic pain is often present at more than one anatomical location, leading to chronic overlapping pain conditions (COPC). Whether COPC represents a distinct pathophysiology from the occurrence of pain at only one site is ...
    • Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders 

      Eijsbouts, Chris; Skogholt, Anne Heidi; Ness-Jensen, Eivind; Hveem, Kristian (Peer reviewed; Journal article, 2021)
      Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for ...
    • Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease 

      Zheng, Thenghao; Skogholt, Anne Heidi; Gabrielsen, Maiken Elvestad; Hveem, Kristian; Thomas, Laurent; Ness-Jensen, Eivind (Peer reviewed; Journal article, 2021)
      Objective Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide ...
    • A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease 

      Wightman, Douglas P.; Jansen, Iris E.; Savage, Jeanne E.; Shadrin, Alexey; Bahrami, Shahram; Holland, Dominic; Rongve, Arvid; Børte, Sigrid; Winsvold, Bendik K S; Drange, Ole Kristian; Martinsen, Amy E.; Skogholt, Anne Heidi; Willer, Cristen; Bråthen, Geir; Bosnes, Ingunn; Nielsen, Jonas Bille; Fritsche, Lars; Thomas, Laurent; Pedersen, Linda Margareth; Gabrielsen, Maiken Elvestad; Johnsen, Marianne Bakke; Meisingset, Tore Wergeland; Zhou, Wei; Proitsi, Petroula; Hodges, Angela; Dobson, Richard; Velayudhan, Latha; Sealock, Julia; Davis, Lea K.; Pedersen, Nancy L.; Reynolds, Chandra A.; Karlsson, Ida K.; Magnusson, Sigurdur; Stefansson, Hreinn; Thordardottir, Steinunn; Jónsson, Pálmi V.; Snædal, Jon; Zettergren, Anna; Skoog, Ingmar; Kern, Silke; Waern, Margda; Zetterberg, Henrik; Blennow, Kaj; Stordal, Eystein; Hveem, Kristian; Zwart, John Anker Henrik; Athanasiu, Lavinia; Selnes, Per; Saltvedt, Ingvild; Sando, Sigrid Botne; Ulstein, Ingun; Djurovic, Srdjan; Fladby, Tormod; Aarsland, Dag; Selbæk, Geir; Ripke, Stephan; Stefánsson, Kári; Andreassen, Ole; Posthuma, Danielle (Journal article; Peer reviewed, 2021)
      Late-onset Alzheimer’s disease is a prevalent age-related polygenic disease that accounts for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying Alzheimer’s disease have been identified. ...
    • 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 ...
    • 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 ...
    • 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 ...