• Associations between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study 

      Solomon, Terry; Smith, Erin N.; Matsui, Hiroko; Brækkan, Sigrid Kufaas; Wilsgaard, Tom; Njølstad, Inger; Mathiesen, Ellisiv B.; Hansen, John-Bjarne; Frazer, Kelly A. (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-06-21)
      Background—Genetic variation can be used to study causal relationships between biomarkers and diseases. Here, we identify new common and rare genetic variants associated with cardiovascular-related protein levels (protein quantitative trait loci [pQTLs]). We functionally annotate these pQTLs, predict and experimentally confirm a novel molecular interaction, and determine which pQTLs are associated ...
    • 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 ...
    • 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 ...
    • Joint effects of cancer and variants in the factor 5 gene on the risk of venous thromboembolism 

      Gran, Olga Vikhammer; Smith, Erin N.; Brækkan, Sigrid Kufaas; Jensvoll, Hilde; Solomon, Terry; Hindberg, Kristian; Wilsgaard, Tom; Rosendaal, Frits Richard; Frazer, Kelly A.; Hansen, John-Bjarne (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-09)
      Venous thromboembolism occurs frequently in cancer patients. Two variants in the factor 5 gene (F5), rs6025 encoding for the factor V Leiden mutation R506Q, and rs4524 encoding K858R, have been found to be associated with venous thromboembolism. We assessed the joint effect of active cancer and these two F5 variants on venous thromboembolism risk in a case-cohort study. Cases with a first venous ...
    • A large-scale exome array analysis of venous thromboembolism 

      Lindström, Sara; Brody, Jennifer A.; Turman, Constance; Germain, Marine; Bartz, Traci M.; Smith, Erin N.; Chen, Ming-Huei; Puurunen, Marja; Chasman, Daniel; Hassler, Jeffrey; Pankratz, Nathan; Basu, Saonli; Guan, Weihua; György, Beata; Ibrahim, Manal; Empana, Jean-Philippe; Olaso, Robert; Jackson, Rebecca; Brækkan, Sigrid Kufaas; McKnight, Barbara; Deleuze, Jean-François; O'Donnell, Christopher J.; Jouven, Xavier; Frazer, Kelly A.; Psaty, Bruce M.; Wiggins, Kerri L.; Taylor, Kent; Reiner, Alexander P.; Heckbert, Susan R.; Kooperberg, Charles; Ridker, Paul; Hansen, John-Bjarne; Tang, Weihong; Johnson, Andrew D.; Morange, Pierre-Emmanuel; Trégouët, David A.; Kraft, Peter; Smith, Nicholas L.; Kabrhel, Christopher (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-01-19)
      Although recent Genome‐Wide Association Studies have identified novel associations for common variants, there has been no comprehensive exome‐wide search for low‐frequency variants that affect the risk of venous thromboembolism (VTE). We conducted a meta‐analysis of 11 studies comprising 8,332 cases and 16,087 controls of European ancestry and 382 cases and 1,476 controls of African American ancestry ...