• ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma 

      Praveen, Kavita; Patel, Gaurang C.; Gurski, Lauren; Ayer, Ariane H.; Persaud, Trikaladarshi; Still, Matthew D.; Miloscio, Lawrence; Van Zyl, Tavé; Di Gioia, Silvio Alessandro; Brumpton, Ben Michael; Krebs, Kristine; Åsvold, Bjørn Olav; Chen, Esteban; Chavali, Venkata R M; Fury, Wen; Gudiseva, Harini V.; Hyde, Sarah; Jorgenson, Eric; Lefebvre, Stephanie; Li, Dadong; Li, Alexander; Mclninch, James; Patel, Brijeshkumar; Rabinowitz, Jeremy S.; Salowe, Rebecca; Schurmann, Claudia; Seidelin, Anne-Sofie; Stahl, Eli; Sun, Dylan; Teslovich, Tanya M.; Tybjærg-Hansen, Anne; Willer, Cristen; Waldron, Scott; Walley, Sabrina; Yang, Hua; Zaveri, Sarthak; Hu, Ying; Hveem, Kristian; Melander, Olle; Milani, Lili; Stender, Stefan; O'Brien, Joan M.; Jones, Marcus B.; Abecasis, Gonçalo R; Cantor, Michael N.; Weyne, Jonathan; Karalis, Katia; Economides, Aris; Della Gatta, Giusy; Ferreira, Manuel A.; Yancopoulos, George D.; Baras, Aris; Romano, Carmelo; Coppola, Giovanni (Peer reviewed; Journal article, 2022)
      Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological changes leading ...
    • 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. ...
    • Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts 

      Wang, Ying; Lopera, Esteban; Namba, Shinichi; Kerminen, Sini; Tsuo, Kristin; Läll, Kristi; Kanai, Masahiro; Zhou, Wei; Wu, Kuan-Han; Favé, Marie-Julie; Bhatta, Laxmi; Awadalla, Philip; Brumpton, Ben Michael; Deelen, Patrick; Hveem, Kristian; Faro, Valeria Lo; Mägi, Reedik; Murakami, Yoshinori; Sanna, Serena; Smoller, Jordan W.; Uzunovic, Jasmina; Wolford, Brooke N.; GBMI, .; Willer, Cristen; Gamazon, Eric R.; Cox, Nancy J.; Surakka, Ida; Okada, Yukinori; Martin, Alicia R.; Hirbo, Jibril B. (Peer reviewed; Journal article, 2023)
      Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies have thoroughly investigated their best practices in global populations across different diseases. We here utilized data ...
    • Mapping genetic determinants of circulating biomarkers in humans: Circulating cardiac troponin I, iron status biomarkers and trace elements 

      Moksnes, Marta Riise (Doctoral theses at NTNU;2022:376, Doctoral thesis, 2022)
      Norsk sammendrag Kartlegging av avgjerande genetiske faktorar for sirkulerande biomarkørar i menneske Dei siste 20 åra har genom-dekkande assosiasjonsstudiar (GWASar) blitt brukt til å identifisere tusenvis av genetiske ...
    • Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk 

      Shrine, Nick; Izquierdo, Abril G.; Chen, Jing; Packer, Richard; Hall, Robert J.; Guyatt, Anna L.; Batini, Chiara; Thompson, Rebecca J.; Pavuluri, Chandan; Malik, Vidhi; Hobbs, Brian D.; Moll, Matthew; Kim, Wonji; Tal-Singer, Ruth; Bakke, Per S.; Fawcett, Katherine A.; John, Catherine; Coley, Kayesha; Piga, Noemi Nicole; Pozarickij, Alfred; Lin, Kuang; Millwood, Iona Y.; Chen, Zhengming; Li, Liming; Wijnant, Sara R A; Lahousse, Lies; Brusselle, Guy; Uitterlinden, Andre G.; Manichaikul, Ani; Oelsner, Elizabeth C.; Rich, Stephen S.; Barr, R Graham; Kerr, Shona M.; Vitart, Veronique; Brown, Michael R.; Wielscher, Matthias; Imboden, Medea; Jeong, Ayoung; Bartz, Traci M.; Gharib, Sina A.; Flexeder, Claudia; Karrasch, Stefan; Gieger, Christian; Peters, Annette; Stubbe, Beate; Hu, Xiaowei; Ortega, Victor E.; Meyers, Deborah A.; Bleecker, Eugene R.; Gabriel, Stacey B.; Gupta, Namrata; Smith, Albert Vernon; Luan, Jian'an; Zhao, Jing-Hua; Hansen, Ailin Falkmo; Langhammer, Arnulf; Willer, Cristen; Bhatta, Laxmi; Porteous, David; Smith, Blair H.; Campbell, Archie; Sofer, Tamar; Lee, Jiwon; Daviglus, Martha L.; Yu, Bing; Lim, Elise; Xu, Hanfei; O'Connor, George T.; Thareja, Gaurav; Albagha, Omar M E; Suhre, Karsten; Granell, Raquel; Faquih, Tariq O.; Hiemstra, Pieter S.; Slats, Annelies M.; Mullin, Benjamin H.; Hui, Jennie; James, Alan; Beilby, John; Patasova, Karina; Hysi, Pirro; Koskela, Jukka T.; Wyss, Annah B.; Jin, Jianping; Sikdar, Sinjini; Lee, Mikyeong; May-Wilson, Sebastian; Pirastu, Nicola; Kentistou, Katherine A.; Joshi, Peter K.; Timmers, Paul R H J; Williams, Alexander T.; Free, Robert C.; Wang, Xueyang; Morrison, John L.; Gilliland, Frank D.; Chen, Zhanghua; Wang, Carol A.; Foong, Rachel E.; Harris, Sarah E.; Taylor, Adele; Redmond, Paul; Cook, James P.; Mahajan, Anubha; Lind, Lars; Palviainen, Teemu; Lehtimäki, Terho; Raitakari, Olli T.; Kaprio, Jaakko; Rantanen, Taina; Pietiläinen, Kirsi H.; Cox, Simon R.; Pennell, Craig E.; Hall, Graham L.; Gauderman, W James; Brightling, Chris; Wilson, James F.; Vasankari, Tuula; Laitinen, Tarja; Salomaa, Veikko; Mook-Kanamori, Dennis O.; Timpson, Nicholas J.; Zeggini, Eleftheria; Dupuis, Josée; Hayward, Caroline; Brumpton, Ben Michael; Langenberg, Claudia; Weiss, Stefan; Homuth, Georg; Schmidt, Carsten Oliver; Probst-Hensch, Nicole; Jarvelin, Marjo-Riitta; Morrison, Alanna C.; Polasek, Ozren; Rudan, Igor; Lee, Joo-Hyeon; Sayers, Ian; Rawlins, Emma L.; Dudbridge, Frank; Silverman, Edwin K.; Strachan, David P.; Walters, Robin G.; Morris, Andrew P.; London, Stephanie J.; Cho, Michael H.; Wain, Louise V.; Hall, Ian P.; Tobin, Martin D. (Peer reviewed; Journal article, 2023)
      Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 ...
    • Using Genomic Structural Equation Modeling to Partition the Genetic Covariance Between Birthweight and Cardiometabolic Risk Factors into Maternal and Offspring Components in the Norwegian HUNT Study 

      Moen, Gunn-Helen Øiseth; Nivard, Michel; Bhatta, Laxmi; Warrington, Nicole Maree; Willer, Cristen; Åsvold, Bjørn Olav; Brumpton, Ben Michael; Evans, David M. (Peer reviewed; Journal article, 2022)
      The Barker Hypothesis posits that adverse intrauterine environments result in fetal growth restriction and increased risk of cardiometabolic disease through developmental compensations. Here we introduce a new statistical ...
    • 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, ...