• 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 

      Sønderby, Ida Elken; van der Meer, Dennis; Moreau, Clara; Kaufmann, Tobias; Walters, G. Bragi; Ellegaard, Maria; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J.; Bernard, Manon; Blackburn, Nicholas B.; Blangero, John; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Bülow, Robin; Bøen, Rune; Cahn, Wiepke; Calhoun, Vince D.; Caspers, Svenja; Ching, Christopher R. K.; Cichon, Sven; Ciufolini, Simone; Crespo-Facorro, Benedicto; Curran, Joanne E.; Dale, Anders M.; Dalvie, Shareefa; Dazzan, Paola; de Geus, Eco J. C.; Zubicaray, Greig I. de; Zwarte, Sonja M. C. de; Desrivieres, Sylvane; Doherty, Joanne L.; Donohoe, Gary; Draganski, Bogdan; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fejgin, Kim; Fisher, Simon E.; Fladby, Tormod; Frei, Oleksandr; Frouin, Vincent; Fukunaga, Masaki; Gareau, Thomas; Ge, Tian; Glahn, David C.; Grabe, Hans J.; Groenewold, Nynke A.; Gustafsson, Omar; Haavik, Jan; Haberg, Asta Kristine; Hall, Jeremy; Hashimoto, Ryota; Hehir-Kwa, Jayne Y.; Hibar, Derrek P.; Hillegers, Manon H. J.; Hoffmann, Per; Holleran, Laurena; Holmes, Avram J.; Johansson, Stefan; Jönsson, Erik Gunnar; Hellard, Stephanie Francoise Claire Le; Lundervold, Arvid; Lundervold, Astri J.; Moberget, Torgeir; Nordvik, Jan Egil; Sando, Sigrid Botne; Steen, Vidar Martin; Tamnes, Christian Krog; Agartz, Ingrid; Djurovic, Srdjan; Westlye, Lars Tjelta; Andreassen, Ole (Journal article; Peer reviewed, 2021)
      Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers ...
    • ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 

      Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence (Journal article; Peer reviewed, 2016)
      Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency ...
    • Body mass index and childhood symptoms of depression, anxiety, and attention-deficit hyperactivity disorder: A within-family Mendelian randomization study 

      Hughes, Amanda M.; Sanderson, Eleanor; Morris, Tim; Ayorech, Ziada; Tesli, Martin Steen; Ask, Helga; Reichborn-Kjennerud, Ted; Andreassen, Ole; Magnus, Per Minor; Helgeland, Øyvind; Johansson, Stefan; Njølstad, Pål Rasmus; Davey Smith, George; Havdahl, Alexandra Karoline Saasen; Howe, Laura D.; Davies, Neil Martin (Peer reviewed; Journal article, 2022)
      Background: Higher BMI in childhood is associated with emotional and behavioural problems, but these associations may not be causal. Results of previous genetic studies imply causal effects but may reflect influence of ...
    • Characterization of the genetic architecture of infant and early childhood body mass index 

      Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol; Flatley, Christopher; Juodakis, Julius; Bacelis, Jonas; Koløen, Ingvild; Knudsen, Gun Peggy Strømstad; Johansson, Bente Berg; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Juliusson, Pétur Benedikt; Stoltenberg, Camilla; Holmen, Oddgeir Lingaas; Andreassen, Ole; Jacobsson, Bo; Njølstad, Pål Rasmus; Johansson, Stefan (Peer reviewed; Journal article, 2022)
      Early childhood obesity is a growing global concern; however, the role of common genetic variation on infant and child weight development is unclear. Here, we identify 46 loci associated with early childhood body mass index ...
    • European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation 

      Budu-Aggrey, Ashley; Kilanowski, Anna; Sobczyk, Maria K.; Shringarpure, Suyash S.; Mitchell, Ruth; Reis, Kadri; Reigo, Anu; Mägi, Reedik; Nelis, Mari; Tanaka, Nao; Brumpton, Ben Michael; Thomas, Laurent Francois; Sole-Navais, Pol; Flatley, Christopher; Espuela-Ortiz, Antonio; Herrera-Luis, Esther; Lominchar, Jesus V. T.; Bork-Jensen, Jette; Marenholz, Ingo; Arnau-Soler, Aleix; Jeong, Ayoung; Fawcett, Katherine A.; Baurecht, Hansjorg; Rodriguez, Elke; Alves, Alexessander Couto; Kumar, Ashish; Sleiman, Patrick M.; Chang, Xiao; Medina-Gomez, Carolina; Hu, Chen; Xu, Cheng-jian; Qi, Cancan; El-Heis, Sarah; Titcombe, Philip; Antoun, Elie; Fadista, João; Wang, Carol A.; Thiering, Elisabeth; Wu, Baojun; Kress, Sara; Kothalawala, Dilini M.; Kadalayil, Latha; Duan, Jiasong; Zhang, Hongmei; Hadebe, Sabelo; Hoffmann, Thomas; Jorgenson, Eric; Choquet, Hélène; Risch, Neil; Njølstad, Pål Rasmus; Andreassen, Ole; Johansson, Stefan; Almqvist, Catarina; Gong, Tong; Ullemar, Vilhelmina; Karlsson, Robert; Magnusson, Patrik K. E.; Szwajda, Agnieszka; Burchard, Esteban G.; Thyssen, Jacob P.; Hansen, Torben; Kårhus, Line L.; Dantoft, Thomas M.; Jeanrenaud, Alexander C.S.N.; Ghauri, Ahla; Arnold, Andreas; Homuth, Georg; Lau, Susanne; Nöthen, Markus M.; Hübner, Norbert; Imboden, Medea; Visconti, Alessia; Falchi, Mario; Bataille, Veronique; Hysi, Pirro; Ballardini, Natalia; Boomsma, Dorret I.; Hottenga, Jouke J.; Müller-Nurasyid, Martina; Ahluwalia, Tarunveer S.; Stokholm, Jakob; Chawes, Bo; Schoos, Ann-Marie M.; Esplugues, Ana; Bustamante, Mariona; Raby, Benjamin; Arshad, Syed; German, Chris; Esko, Tõnu; Milani, Lili A.; Metspalu, Andres; Terao, Chikashi; Abuabara, Katrina; Løset, Mari; Hveem, Kristian; Jacobsson, Bo; Pino-Yanes, Maria; Strachan, David P.; Grarup, Niels; Linneberg, Allan; Lee, Young-Ae; Probst-Hensch, Nicole; Weidinger, Stephan; Jarvelin, Marjo-Riitta; Melén, Erik; Hakonarson, Hakon; Irvine, Alan D.; Jarvis, Deborah; Nijsten, Tamar; Duijts, Liesbeth; Vonk, Judith M.; Koppelmann, Gerard H.; Godfrey, Keith M.; Barton, Sheila J.; Feenstra, Bjarke; Pennell, Craig E.; Sly, Peter D.; Holt, Patrick G.; Williams, L. Keoki; Bisgaard, Hans; Bønnelykke, Klaus; Curtin, John; Simpson, Angela; Murray, Clare; Schikowski, Tamara; Bunyavanich, Supinda; Weiss, Scott T.; Holloway, John W.; Min, Josine L.; Brown, Sara J.; Standl, Marie; Paternoster, Lavinia (Peer reviewed; Journal article, 2023)
      Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery ...
    • Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study) 

      Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge; Platou, Carl Geoffrey Parrinder; Midthjell, Kristian; Hveem, Kristian; Molven, Anders; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2011)
      Background Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment ...
    • Exome chip analyses in adult attention deficit hyperactivity disorder 

      Zayats, Tetyana; Jacobsen, Kaya Kvarme; Kleppe, Rune; Jacob, CP; Kittel-Schneider, Sarah; Ribases, Marta; Ramos-Quiroga, JA; Richarte, Vanesa; Casas, M; Mota, NR; Grevet, EH; Klein, M; Corominas, J; Bralten, Janita; Galesloot, T; Vasquez, AA; Herms, S; Forstner, AJ; Larsson, H; Breen, G; Asherson, P; Gross-Lesch, Silke; Lesch, KP; Cichon, Sven; Gabrielsen, Maiken Elvestad; Holmen, Oddgeir Lingaas; Bau, CH; Buitelaar, Jan; Kiemeney, L; Faraone, Stephen V.; Cormand, B; Franke, Barbara; Reif, Andreas; Haavik, Jan; Johansson, Stefan (Journal article; Peer reviewed, 2016)
      Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable childhood-onset neuropsychiatric condition, often persisting into adulthood. The genetic architecture of ADHD, particularly in adults, is largely unknown. ...
    • Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth 

      Beaumont, Robin N.; Flatley, Christopher; Vaudel, Marc; Wu, Xiaoping; Chen, Jing; Moen, Gunn-Helen Øiseth; Skotte, Line; Helgeland, Øyvind; Solé-Navais, Pol; Banasik, Karina; Albiñana, Clara; Ronkainen, Justiina; Fadista, João; Stinson, Sara Elizabeth; Trajanoska, Katerina; Wang, Carol A.; Westergaard, David; Srinivasan, Sundararajan; Sánchez-Soriano, Carlos; Bilbao, Jose Ramon; Allard, Catherine; Groleau, Marika; Kuulasmaa, Teemu; Leirer, Daniel J.; White, Frédérique; Jacques, Pierre-Étienne; Cheng, Haoxiang; Hao, Ke; Andreassen, Ole; Åsvold, Bjørn Olav; Atalay, Mustafa; Bhatta, Laxmi; Bouchard, Luigi; Brumpton, Ben Michael; Brunak, Søren; Bybjerg-Grauholm, Jonas; Ebbing, Cathrine; Elliott, Paul; Engelbrechtsen, Line; Erikstrup, Christian; Estarlich, Marisa; Franks, Stephen; Gaillard, Romy; Geller, Frank; Grove, Jakob; Hougaard, David M.; Kajantie, Eero Olavi; Morgen, Camilla S.; Nøhr, Ellen Aagaard; Nyegaard, Mette; Palmer, Colin N. A.; Pedersen, Ole Birger; Rivadeneira, Fernando; Sebert, Sylvain; Shields, Beverley M.; Stoltenberg, Camilla; Surakka, Ida; Thørner, Lise Wegner; Ullum, Henrik; Vaarasmaki, Marja; Vilhjalmsson, Bjarni J.; Willer, Cristen J.; Lakka, Timo A.; Gybel-Brask, Dorte; Bustamante, Mariona; Hansen, Torben; Pearson, Ewan R.; Reynolds, Rebecca M.; Ostrowski, Sisse R.; Pennell, Craig E.; Jaddoe, Vincent W. V.; Felix, Janine F.; Hattersley, Andrew T.; Melbye, Mads; Lawlor, Deborah A.; Hveem, Kristian; Werge, Thomas; Nielsen, Henriette Svarre; Magnus, Per Minor; Evans, David M.; Jacobsson, Bo; Järvelin, Marjo-Riitta; Zhang, Ge; Hivert, Marie-France; Johansson, Stefan; Freathy, Rachel M.; Feenstra, Bjarke; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2023)
      A well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65,405), ...
    • Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth 

      Helgeland, Øyvind; Vaudel, Marc; Juliusson, Petur Benedikt; Holmen, Oddgeir Lingaas; Juodakis, Julius; Bacelis, Jonas; Jacobsson, Bo; Lindekleiv, Haakon; Hveem, Kristian; Lie, Rolv T.; Knudsen, Gun Peggy Strømstad; Stoltenberg, Camilla; Magnus, Per; Sagen, Jørn V.; Molven, Anders; Johansson, Stefan; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2019)
    • GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility 

      Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Artaza, Haydee; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Study group, Norwegian Addison Registry; Study Group, Swedish Addison Registry; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2021)
      Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ...
    • The Chromosome 9p21 CVD- and T2D-Associated Regions in a Norwegian Population (The HUNT2 Survey) 

      Helgeland, Øyvind; Hertel, Jens Kristoffer; Molven, Anders; Ræder, Helge; Platou, Carl Geoffrey Parrinder; Midthjell, Kristian; Hveem, Kristian; Nygård, Ottar; Njølstad, Pål Rasmus; Johansson, Stefan (Journal article; Peer reviewed, 2015)
      Background. Two adjacent regions upstream CDKN2B on chromosome 9p21 have been associated with type 2 diabetes (T2D) and progression of cardiovascular disease (CVD).The precise location and number of risk variants have not ...
    • Type 2 diabetes genes : present status and data from Norwegian studies 

      Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian; Nygård, Ottar; Njølstad, Pål Rasmus; Molven, Anders (Journal article; Peer reviewed, 2013)
      The worldwide rise in prevalence of type 2 diabetes has led to an intense search for the genetic risk factors of this disease. In type 2 diabetes and other complex disorders, multiple genetic and environmental factors, as ...