• COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study 

      Jacobsen, Kaya Kvarme; Børte, Sigrid; Laborie, Lene Bjerke; Kristiansen, Hege; Schäfer, Annette; Gundersen, Trude; Zayats, Tetyana; Winsvold, Bendik Kristoffer Slagsvold; Martinsen, Amy; Skogholt, Anne Heidi; Brumpton, Ben Michael; Willer, Cristen J; Fors, Egil Andreas; Kristoffersen, Espen Saxhaug; Heuch, Ingrid; Mundal, Ingunn Pernille; Zwart, John Anker Henrik; Nielsen, Jonas B.; Storheim, Kjersti; Hagen, Knut; Nilsen, Kristian Bernhard; Hveem, Kristian; Fritsche, Lars G; Thomas, Laurent Francois; Pedersen, Linda Margareth; Gabrielsen, Maiken Elvestad; Lie, Marie U.; Stensland, Synne; Zhou, Wei; Rosendahl, Karen (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-12-16)
      Objective: Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2-3% of all infants. DDH increases the risk of osteoarthritis, is the cause of 30% of all total hip arthroplasties (THAs) in adults <40 years of age and can result in loss of life quality. Our aim was to explore the genetic background of DDH in order to improve diagnosis, management and longterm outcome.<p><p> ...
    • Combined effects of five prothrombotic genotypes and cancer on the risk of a first venous thromboembolic event 

      Skille, Hanne; Paulsen, Benedikte; Hveem, Kristian; Gabrielsen, Maiken Elvestad; Brumpton, Ben Michael; Hindberg, Kristian; Gran, Olga Vikhammer; Rosendaal, Frits Richard; Brækkan, Sigrid Kufaas; Hansen, John-Bjarne (Journal article; Tidsskriftartikkel; Peer reviewed, 2020-07-16)
      Background - The role of combined prothrombotic genotypes in cancer‐related venous thromboembolism (VTE) is scarcely studied. We aimed to investigate the impact of a 5‐single nucleotide polymorphism (SNP) score on the risk of VTE in patients with and without cancer using a population‐based case‐cohort.<p> <p>Methods - Cases with a first VTE (n = 1493) and a subcohort (n = 13 072) were derived ...
    • 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 (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-07-17)
      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 implicated in both. A shared genetic basis to migraine and mental disorders has been suggested but previous studies have reported weak or non-significant genetic correlations and five ...
    • Fibrinogen gamma gene rs2066865 and risk of cancer-related venous thromboembolism 

      Paulsen, Benedikte; Skille, Hanne; Smith, Erin N.; Hveem, Kristian; Gabrielsen, Maiken Elvestad; Brækkan, Sigrid Kufaas; Rosendaal, Frits Richard; Frazer, Kelly A.; Gran, Olga Vikhammer; Hansen, John-Bjarne (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-10-03)
      Venous thromboembolism is a frequent complication in patients with cancer. Homozygous carriers of the fibrinogen gamma gene (FGG) rs2066865 have a moderately increased risk of venous thromboembolism, but the effect of the FGG variant in cancer is unknown. We aimed to investigate the effect of the FGG variant and active cancer on the risk of venous thromboembolism. Cases with incident venous ...
    • Genetic Variation Of Platelet Glycoprotein VI And The Risk Of Venous Thromboembolism 

      Skille, Hanne; Paulsen, Benedikte; Hveem, Kristian; Gabrielsen, Maiken Elvestad; Brumpton, Ben Michael; Hindberg, Kristian; Gran, Olga Vikhammer; Rosendaal, Frits Richard; Brækkan, Sigrid Kufaas; Hansen, John-Bjarne (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-11-07)
      Family studies have indicated that heritability explains 50-60% of the venous thromboembolism (VTE) events, and in recent years, several single nucleotide polymorphisms (SNPs) have been found to influence the VTE risk. Glycoprotein 6 (GP6) rs1613662, also known as T13254C, is an A/G single nucleotide variation in amino acid 219, which results in a serine to proline substitution affecting ...
    • Genetically predicted cortisol levels and risk of venous thromboembolism 

      Allarai, Elias; Lee, Wei-Hsuan; Burgess, Stephen; Larsson, Susanna C.; Lindstrom, Sara; Wang, Lu; Smith, Erin N.; Gordon, William; Van Hylckama Vlieg, Astrid; De Andrade, Mariza; Brody, Jennifer A.; Pattee, Jack W.; Haessler, Jeffrey; Brumpton, Ben Michael; Chasman, Daniel I.; Suchon, Pierre; Chen, Ming-Huei; Turman, Constance; Germain, Marine; Wiggins, Kerri L.; Macdonald, James; Brækkan, Sigrid Kufaas; Armasu, Sebastian M.; Pankratz, Nathan; Jackson, Rabecca D.; Nielsen, Jonas B; Giulianini, Franco; Puurunen, Marja K.; Ibrahim, Manal; Heckbert, Susan R.; Bammler, Theo K.; Frazer, Kelly A.; Mccauley, Bryan M.; Taylor, Kent; Pankow, James S.; Reiner, Alexander P.; Gabrielsen, Maiken Elvestad; Deleuze, Jean-Francois; O'Donnell, Chris J.; Kim, Jihye; Mcknight, Barbara; Kraft, Peter; Hansen, John Bjarne; Rosendaal, Frits Richard; Heit, John A.; Psaty, Bruce M.; Tang, Weihong; Kooperberg, Charles; Hveem, Kristian; Ridker, Paul M.; Morange, Pierre-Emmanuel; Johnson, Andrew D.; Kabrhel, Christopher; Alexandretrégouët, David; Smith, Nicholas L. (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-08-19)
      Introduction - In observational studies, venous thromboembolism (VTE) has been associated with Cushing’s syndrome and with persistent mental stress, two conditions associated with higher cortisol levels. However, it remains unknown whether high cortisol levels within the usual range are causally associated with VTE risk. We aimed to assess the association between plasma cortisol levels and VTE risk ...
    • Impact of prothrombotic genotypes on the association between family history of myocardial infarction and venous thromboembolism 

      Småbrekke, Birgit; Balteskard Rinde, Ludvig; Evensen, Line Holtet; Morelli, Vania Maris; Hveem, Kristian; Gabrielsen, Maiken Elvestad; Njølstad, Inger; Mathiesen, Ellisiv B.; Rosendaal, Frits Richard; Brækkan, Sigrid Kufaas; Hansen, John-Bjarne (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-05-24)
      <i>Background</i>: Family history of myocardial infarction (FHMI) is known to increase the risk of venous thromboembolism (VTE).<p> <p><i>Objectives</i>: To investigate the effect of prothrombotic genotypes on the association between FHMI and VTE in a case‐cohort recruited from a general population.<p> <p><i>Methods</i>: Cases with a first VTE (<i>n</i> = 1493) and a subcohort (<i>n</i> = ...
    • Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls 

      Timofeeva, MN; Hung, RJ; Rafnar, T; Christiani, DC; Field, JK; Bickeboller, H; Risch, A; McKay, JD; Wang, Y; Dai, J; Gaborieau, V; McLaughlin, J; Brenner, D; Narod, SA; Caporaso, NE.; Albanes, D; Thun, M; Eisen, T; Wichmann, HE; Rosenberger, A; Han, Y; Chen, W; Zhu, D; Spitz, M; Wu, X; Pande, M; Zhao, Y; Zaridze, D; Szeszenia-Dabrowska, N; Lissowska, J; Rudnai, P; Fabianova, E; Mates, D; Bencko, V; Foretova, L; Janout, V; Krokan, Hans Einar; Gabrielsen, Maiken Elvestad; Skorpen, Frank; Vatten, Lars Johan; Njølstad, Inger; Chen, C; Goodman, G; Lathrop, M; Benhamou, S; Vooder, T; Valk, K; Nelis, M; Metspalu, Andres; Raji, O; Chen, Y; Gosney, J; Liloglou, T; Muley, T; Dienemann, H; Thorleifsson, G; Shen, H.; Stefansson, Kari; Brennan, Paul; Amos, CI; Houlston, Richard; Landi, MT (Journal article; Tidsskriftartikkel; Peer reviewed, 2012)
      Recent genome-wide association studies (GWASs) have identified common genetic variants at 5p15.33, 6p21–6p22 and 15q25.1 associated with lung cancer risk. Several other genetic regions including variants of CHEK2 (22q12), TP53BP1 (15q15) and RAD52 (12p13) have been demonstrated to influence lung cancer risk in candidate- or pathway-based analyses. To identify novel risk variants for lung cancer, we ...
    • Joint Effect of Multiple Prothrombotic Genotypes and Obesity on the Risk of Incident Venous Thromboembolism 

      Frischmuth, Tobias; Hindberg, Kristian; Gabrielsen, Maiken Elvestad; Brumpton, Ben Michael; Hveem, Kristian; Brækkan, Sigrid Kufaas; Hansen, John-Bjarne; Morelli, Vania Maris (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-05-03)
      <p><b>Background</b> The impact of the combination of obesity and multiple prothrombotic genotypes on venous thromboembolism (VTE) risk remains unclear. <p><b>Objective</b> To investigate the joint effect of obesity and a genetic risk score (GRS) composed of established prothrombotic single nucleotide polymorphisms (SNPs) on VTE risk using a population-based case–cohort. <p><b>Methods</b> Cases ...
    • Prothrombotic genotypes and risk of venous thromboembolism in occult cancer 

      Skille, Hanne; Paulsen, Benedikte; Hveem, Kristian; Severinsen, Marianne T.; Gabrielsen, Maiken Elvestad; Kristensen, Søren R.; Næss, Inger Anne; Hindberg, Kristian; Tjønneland, Anne; Brækkan, Sigrid Kufaas; Hansen, John-Bjarne (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-07-01)
      Background - Studies have reported that the combination of some prothrombotic genotypes and overt cancer yields a synergistic effect on VTE risk. Whether individual prothrombotic genotypes or number of risk alleles in a genetic risk score (GRS) affect VTE risk in occult cancer have not been addressed. The aim of this study was to investigate the joint effect of five prothrombotic genotypes and occult ...
    • The Risk of Venous Thromboembolism Attributed to Established Prothrombotic Genotypes 

      Holtet Evensen, Line; Arnesen, Carl-Arne; Rosendaal, Frits Richard; Gabrielsen, Maiken Elvestad; Brumpton, Ben Michael; Hveem, Kristian; Hansen, John Bjarne; Brækkan, Sigrid Kufaas (Journal article; Tidsskriftartikkel, 2022-01-17)
      <p><i>Background -</i> The proportion of venous thromboembolism (VTE) events that can be attributed to established prothrombotic genotypes has been scarcely investigated in the general population. We aimed to estimate the proportion of VTEs in the population that could be attributed to established prothrombotic genotypes using a population-based case-cohort. <p><i>Methods -</i> Cases with incident ...
    • 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 (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-01-15)
      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, broad investigations of outcomes over the lifetime, leveraging genetic variation in serum PCSK9, have seldomly been conducted. We investigated effects of these variants on a range ...