• Avoiding dynastic, assortative mating, and population stratification biases in Mendelian randomization through within-family analyses 

      Brumpton, Ben Michael; Sanderson, Eleanor; Heilbron, Karl; Hartwig, FP; Harrison, S; Vie, Gunnhild Åberge; Cho, Y; Howe, LD; Hughes, A; Boomsma, D; Havdahl, Alexandra; Hopper, J; Neale, M; Nivard, Michel G.; Pedersen, N; Reynolds, CA; Tucker-D, EM; Grotzinger, A; Howe, Laurence; Morris, Tim; Li, Shuai; Within-Family Consortium, The; 23andMe Research Team, The; Auton, A; Windmeijer, F; Chen, W-M; Bjørngaard, Johan Håkon; Hveem, Kristian; Willer, C; Evans, DM; Kaprio, J; Davey Smith, G; Åsvold, BO; Åsvold, Bjørn Olav; Hemani, G; Davies, Neil Martin (Peer reviewed; Journal article, 2020)
      Estimates from Mendelian randomization studies of unrelated individuals can be biased due to uncontrolled confounding from familial effects. Here we describe methods for within-family Mendelian randomization analyses and ...
    • The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants 

      Rio-Machin, Ana; Villiamy, Tom; Hug, Nele; Walne, Amanda; Tawana, Kiran; Cardoso, Shirleny; Ellison, Alicia; Pontikos, Nikolas; Wang, Jun; Tummala, Hemanth; Al Seraihi, Ahad Fahad H.; Alnajar, Jenna; Bewicke-Copley, Findlay; Barnett, Michael; Armes, Hannah; Bloor, Adrian; Bödör, Csabo; Bowen, David; Fenaux, Pierre; Green, Andrew; Hallahan, Andrew; Hjorth-Hansen, Henrik; Hossein, Upal; Killick, Sally; Lawson, Sarah; Layton, Mark; Male, Alison M.; Marsh, Judith; Mehta, Priyanka; Mous, Rogier; Nomdedéu, Josep F.; Owen, Carolyn; Pavlu, Jiri; Payne, Elspeth; Protheroe, Rachel E.; Preudhomme, Claude; Pujol-Moix, Nuria; Renneville, Aline; Russell, Nigel; Saggar, Anand; Sciuccati, Gabriela; Taussig, David; Toze, Cynthia; Uyttebroeck, Anne; Vandenberghe, Peter; Schlegelberger, Brigitte; Ripperger, Tim; Steinemann, Doris; Wu, John; Mason, Joanne; Page, Paula; Akiki, Susanna; Reay, Kim; Cavenagh, Jamie D.; Plagnol, Vincent; Caceres, Javier F.; Fitzgibbon, Jude; Dokal, Inderjeet (Peer reviewed; Journal article, 2020)
      The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we ...
    • 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 ...
    • Mendelian randomization study of maternal influences on birthweight and future cardiometabolic risk in the HUNT cohort 

      Moen, Gunn-Helen; Brumpton, Ben Michael; Willer, Cristen J.; Åsvold, Bjørn Olav; Birkeland, Kåre I.; Wang, Geng; Neale, Michael C.; Freathy, Rachel M.; Smith, George Davey; Lawlor, Debbie A.; Kirkpatrick, Robert M.; Warrington, Nicole Maree; Evans, David M. (Peer reviewed; Journal article, 2020)
      There is a robust observational relationship between lower birthweight and higher risk of cardiometabolic disease in later life. The Developmental Origins of Health and Disease (DOHaD) hypothesis posits that 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 ...