• Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes 

      Goodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Córdova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josée; Garay-Sevilla, Ma Eugenia; García-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; González-Villalpando, Clicerio; Gonzalez, Ma Elena; Grarup, Niels; Groop, L; Gross, Myron; Haiman, Christopher A.; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jørgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martínez-Hernández, Angélica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, AD; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O’Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, W; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusié-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noël P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O’Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, MS (Journal article; Peer reviewed, 2021)
      Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. ...
    • FTO, Type 2 Diabetes, and Weight Gain Throughout Adult Life: A Meta-Analysis of 41,504 Subjects From the Scandinavian HUNT, MDC, and MPP Studies 

      Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily; Jonsson, Anna; Lie, Rolv Terje; Platou, Carl G. P.; Nilsson, Peter M.; Rukh, Gull; Midthjell, Kristian; Hveem, Kristian; Melander, Olle; Groop, Leif; Lyssenko, Valeriya; Molven, Anders; Orho-Melander, Marju; Njølstad, Pål Rasmus (Research report; Peer reviewed, 2011-05)
      OBJECTIVE—FTO is the most important polygene identified for obesity. We aimed to investigate whether a variant in FTO affects type 2 diabetes risk entirely through its effect on BMI and how FTO influences BMI across adult ...
    • Increased Plasma Soluble Interleukin-2 Receptor Alpha Levels in Patients With Long-Term Type 1 Diabetes With Vascular Complications Associated With IL2RA and PTPN2 Gene Polymorphisms 

      Keindl, Magdalena; Fedotkina, Olena; du Plessis, Elsa; Jain, Ruchi; Bergum, Brith; Mygind Jensen, Troels; Laustrup Møller, Cathrine; Falhammar, Henrik; Nyström, Thomas; Catrina, Sergiu-Bogdan; Jörneskog, Gun; Groop, Leif; Eliasson, Mats; Eliasson, Björn; Brismar, Kerstin; Nilsson, Peter M.; Berg, Tore Julsrud; Appel, Silke; Lyssenko, Valeriya (Journal article; Peer reviewed, 2020)
      Type 1 diabetes (T1D) is largely considered an autoimmune disease leading to the destruction of insulin-producing pancreatic β cells. Further, patients with T1D have 3–4-fold increased risk of developing micro- and ...
    • Liver nucleotide biosynthesis is linked to protection from vascular complications in individuals with long-term type 1 diabetes 

      Jain, Ruchi; Özgümüs, Türküler; Jensen, Troels Mygind; du Plessis, Elsa; Keindl, Magdalena; Møller, Cathrine Laustrup; Falhammar, Henrik; Nyström, Thomas; Catrina, Sergiu-Bogdan; Jörneskog, Gun; Jessen, Leon Eyrich; Forsblom, Carol; Haukka, Jani K.; Groop, Per-Henrik; Rossing, Peter; Groop, Leif; Eliasson, Mats; Eliasson, Björn; Brismar, Kerstin; Al-Majdoub, Mahmoud; Nilsson, Peter M.; Taskinen, Marja-Riitta; Ferrannini, Ele; Spégel, Peter; Berg, Tore Julsrud; Lyssenko, Valeriya (Journal article; Peer reviewed, 2020)
      Identification of biomarkers associated with protection from developing diabetic complications is a prerequisite for an effective prevention and treatment. The aim of the present study was to identify clinical and plasma ...
    • Novel Reclassification of Adult Diabetes Is Useful to Distinguish Stages of β-Cell Function Linked to the Risk of Vascular Complications: The DOLCE Study From Northern Ukraine 

      Fedotkina, Olena; Sulaieva, Oksana; Özgümüs, Türküler; Cherviakova, Liubov; Khalimon, Nadiya; Svietleisha, Tetiana; Buldenko, Tetiana; Ahlqvist, Emma; Asplund, Olof; Groop, Leif; Nilsson, Peter M.; Lyssenko, Valeriya (Journal article; Peer reviewed, 2021)
      Background: Presently, persons with diabetes are classified as having type 1 (T1D) or type 2 diabetes (T2D) based on clinical diagnosis. However, adult patients exhibit diverse clinical representations and this makes ...
    • Reduced expression of OXPHOS and DNA damage genes is linked to protection from microvascular complications in long-term type 1 diabetes: the PROLONG study 

      Özgümüs, Türküler; Sulaieva, Oksana; Jessen, Leon E.; Jain, Ruchi; Falhammar, Henrik; Nyström, Thomas; Catrina, Sergiu-Bogdan; Jörneskog, Gun; Groop, Leif; Eliasson, Mats; Eliasson, Björn; Brismar, Kerstin; Stokowy, Tomasz; Nilsson, Peter M.; Lyssenko, Valeriya (Journal article; Peer reviewed, 2021)
      Type 1 diabetes is a chronic autoimmune disease requiring insulin treatment for survival. Prolonged duration of type 1 diabetes is associated with increased risk of microvascular complications. Although chronic hyperglycemia ...
    • Replication and cross-validation of type 2 diabetes subtypes based on clinical variables: an IMI-RHAPSODY study 

      Slieker, Roderick C.; Donnelly, Louise A.; Fitipaldi, Hugo; Bouland, Gerard A.; Giordano, Giuseppe N.; Åkerlund, Mikael; Gerl, Mathias J.; Ahlqvist, Emma; Ali, Ashfaq; Dragan, Iulian; Festa, Andreas; Hansen, Michael K.; Mansour Aly, Dina; Kim, Min; Kuznetsov, Dmitry; Mehl, Florence; Klose, Christian; Simons, Kai; Pavo, Imre; Pullen, Timothy J.; Suvitaival, Tommi; Wretlind, Asger; Rossing, Peter; Lyssenko, Valeriya; Legido-Quigley, Cristina; Groop, L; Thorens, Bernard; Franks, Paul W; Ibberson, Mark; Rutter, Guy A.; Beulens, Joline W.J.; ‘t Hart, Leen M.; Pearson, Ewan R. (Journal article; Peer reviewed, 2021)
      Aims/hypothesis: Five clusters based on clinical characteristics have been suggested as diabetes subtypes: one autoimmune and four subtypes of type 2 diabetes. In the current study we replicate and cross-validate these ...
    • Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability 

      Lagou, Vasiliki; Mägi, Reedik; Hottenga, Jouke- Jan; Grallert, Harald; Perry, John R. B.; Bouatia-Naji, Nabila; Marullo, Letizia; Rybin, Denis V.; Jansen, Rick; Min, JL; Dimas, AS; Ulrich, Anna; Zudina, Liudmila; Gådin, Jesper R.; Jiang, Longda; Faggian, Alessia; Bonnefond, Amélie; Fadista, Joao; Stathopoulou, Maria G.; Isaacs, Aaron; Willems, Sara M.; Navarro, Pau; Tanaka, Toshiko; Jackson, Anne U.; Montasser, May E.; O’Connell, Jeff R.; Bielak, Lawrence F.; Webster, Rebecca J.; Saxena, Richa; Stafford, Jeanette M.; Pourcain, Beate St; Timpson, Nicholas J.; Salo, Perttu; Shin, SY; Amin, Najaf; Smith, Albert V.; Li, G; Verweij, Niek; Goel, Anuj; Ford, Ian; Johnson, Paul C. D.; Johnson, Toby; Kapur, Karen; Thorleifsson, Gudmar; Strawbridge, Rona J.; Rasmussen-Torvik, Laura J.; Esko, Tõnu; Mihailov, E; Fall, Tove; Fraser, Ross M; Mahajan, Anubha; Kanoni, Stavroula; Giedraitis, Vilmantas; Kleber, Marcus E.; Silbernagel, Günther; Meyer, Julia; Müller-Nurasyid, Martina; Ganna, Andrea; Sarin, Antti-Pekka; Yengo, Loic; Shungin, D; Luan, Jian’an; Horikoshi, Momoko; An, Ping; Sanna, Serena; Boettcher, Yvonne; Rayner, Nigel W; Nolte, Ilja M.; Zemunik, Tatijana; Iperen, Erik van; Kovacs, Peter; Hastie, Nicholas D.; Wild, Sarah H.; McLachlan, Stela; Campbell, Susan; Polasek, Ozren; Carlson, Olga; Egan, Josephine; Kiess, Wieland; Willemsen, Gonneke; Kuusisto, Johanna; Laakso, Markku; Dimitriou, M; Hicks, Andrew A.; Rauramaa, Rainer; Bandinelli, Stefania; Thorand, Barbara; Liu, Yongmei; Miljkovic, Iva; Lind, Lars; Doney, Alex; Perola, Markus; Hingorani, Aroon; Kivimaki, Mika; Kumari, Meena; Bennett, Amanda J.; Groves, Christopher J.; Herder, Christian; Koistinen, Heikki A.; Kinnunen, Leena; Faire, Ulf de; Bakker, Stephan J. L.; Uusitupa, Matti; Palmer, Colin N. A.; Jukema, J. Wouter; Sattar, Naveed; Pouta, Anneli; Snieder, Harold; Boerwinkle, Eric; Pankow, James S.; Magnusson, Patrik K.; Krus, Ulrika; Scapoli, Chiara; de Geus, Eco J. C. N.; Blüher, Matthias; Wolffenbuttel, Bruce H. R.; Province, Michael A.; Abecasis, Goncalo R.; Meigs, James B.; Hovingh, G. Kees; Lindström, Jaana; Wilson, JF; Wright, Alan F.; Dedoussis, George; Bornstein, Stefan R.; Schwarz, Peter E. H.; Tönjes, Anke; Winkelmann, Bernhard R.; Boehm, Bernhard O.; März, Winfried; Metspalu, Andres; Price, Jackie F.; Deloukas, Panos; Körner, Antje; Lakka, Timo A.; Keinanen-Kiukaanniemi, Sirkka M.; Saaristo, Timo E.; Bergman, Richard N.; Tuomilehto, Jaakko; Wareham, Nick; Langenberg, Claudia; Männistö, Satu; Franks, Paul W; Hayward, Caroline; Vitart, Veronique; Kaprio, Jaakko; Visvikis-Siest, Sophie; Balkau, Beverley; Altshuler, D; Rudan, Igor; Stumvoll, Michael; Campbell, Harry; van Duijn, Cornelia M.; Gieger, Christian; Illig, Thomas; Ferrucci, Luigi; Pedersen, Nancy L.; Pramstaller, Peter P.; Boehnke, Michael; Frayling, TM; Shuldiner, Alan R.; Peyser, Patricia A.; Kardia, Sharon L. R.; Palmer, Lyle J.; Penninx, Brenda W.; Meneton, Pierre; Harris, Tamara B.; Navis, Gerjan; Harst, Pim van der; Smith, George Davey; Forouhi, Nita G.; Loos, Ruth J. F.; Salomaa, Veikko; Soranzo, Nicole; Boomsma, Dorret I.; Groop, L; Tuomi, Tiinamaija; Hofman, Albert; Munroe, Patricia B.; Gudnason, Vilmundur; Siscovick, David S.; Watkins, Hugh; Lecoeur, Cecile; Vollenweider, Peter; Franco-Cereceda, Anders; Eriksson, Per; Jarvelin, Marjo-Riitta; Stefansson, Kari; Hamsten, Anders; Nicholson, George; Karpe, Fredrik; Dermitzakis, Emmanouil T.; Lindgren, Cecilia M.; McCarthy, Mark I.; Froguel, Philippe; Kaakinen, Marika A.; Lyssenko, Valeriya; Watanabe, Richard M.; Ingelsson, Erik; Florez, Jose C.; Dupuis, Josée; Barroso, I; Morris, Andrew P.; Prokopenko, Inga (Journal article; Peer reviewed, 2021)
      Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in ...
    • Starvation to Glucose Reprograms Development of Neurovascular Unit in Embryonic Retinal Cells 

      Özgümüs, Türküler; Sulaieva, Oksana; Jain, Ruchi; Artner, Isabella; Lyssenko, Valeriya (Journal article; Peer reviewed, 2021)
      Perinatal exposure to starvation is a risk factor for development of severe retinopathy in adult patients with diabetes. However, the underlying mechanisms are not completely understood. In the present study, we shed light ...