• Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis 

      Zhang, Ge; Bacelis, Jonas; Lengyel, Candice; Teramo, Kari; Hallman, Mikko; Helgeland, Øyvind; Johansson, Stefan; Myhre, Ronny; Sengpiel, Verena; Njølstad, Pål Rasmus; Jacobsson, Bo; Muglia, Louis (Peer reviewed; Journal article, 2015-08-18)
      Background: Observational epidemiological studies indicate that maternal height is associated with gestational age at birth and fetal growth measures (i.e., shorter mothers deliver infants at earlier gestational ages with ...
    • Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population 

      Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise; Najmi, Laeya Abdoli; Njølstad, Pål Rasmus; MacArthur, Daniel G.; The SIGMA Type 2 Diabetes Consortium (Peer reviewed; Journal article, 2014-06)
      Importance: Latino populations have one of the highest prevalences of type 2 diabetes worldwide. Objectives: To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in ...
    • Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies 

      Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte; Andersen, Marie Louise Max; Sandal, Tone; de Wet, Heidi; Schwarcz, Erik; Åman, Jan; Swift, Peter; Kocova, Mirjana; Schönle, Eugen J.; de Beaufort, Carine; Hougaard, Philip; Ashcroft, Frances; Molven, Anders; Knip, Mikael; Mortensen, Henrik B.; Hansen, Lars; Njølstad, Pål Rasmus; Hvidøre Study Group on Childhood Diabetes (Peer reviewed; Journal article, 2010-09-23)
      Background: To investigate disease progression the first 12 months after diagnosis in children with type 1 diabetes negative (AAB negative) for pancreatic autoantibodies [islet cell autoantibodies(ICA), glutamic acid ...
    • The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α 

      Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Aukrust, Ingvild (Peer reviewed; Journal article, 2018-08-24)
      The transcription factor hepatocyte nuclear factor-1α (HNF-1A) is involved in normal pancreas development and function. Rare variants in the HNF1A gene can cause monogenic diabetes, while common variants confer type 2 ...
    • Etablering av mastergradsstudium i Molekylærmedisin ved Medisinsk fakultet, Universitetet i Bergen 

      Njølstad, Pål Rasmus (UPED-skrift nr. 1/2004, Working paper, 2004)
      Pål Rasmus Njøstad (Det medisinske fakultet) tar for seg etableringen av et mastergradsstudium i molekylærmedisin ved Det medisinsk fakultet som et tredje program innen mastergraden i humanbiologiske fag. Han beskriver ...
    • 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 G. P.; Midthjell, Kristian; Hveem, Kristian; Molven, Anders; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2011-02-04)
      <b>Background:</b> 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 Sequencing and Genetic Testing for MODY 

      Johansson, Stefan; Irgens, Henrik; Chudasama, Kishan K.; Molnes, Janne; Aerts, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Roque, Francisco S.; Jonassen, Inge; Molven, Anders (Peer reviewed; Journal article, 2012-05-25)
      Context: Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard ...
    • 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 ...
    • Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro 

      Velasco Pinto, Kelly; St-Louis, Johanna; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål Rasmus; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line Merethe; Molven, Anders (Journal article; Peer reviewed, 2021)
      Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as ...
    • The genetic architecture of sporadic and multiple consecutive miscarriage 

      Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa; Painter, Jodie N.; Censin, Jenny C.; Laber, Samantha; Bacelis, Jonas; Chen, Chia-Yen; Lepamets, Maarja; Lin, Kuang; Liu, Siyang; Millwood, Iona Y.; Ramu, Avinash; Southcombe, Jennifer; Andersen, Marianne S.; Yang, Ling; Becker, Christian M.; Børglum, Anders D.; Gordon, Scott D.; Bybjerg-Grauholm, Jonas; Helgeland, Øyvind; Hougaard, David M.; Jin, Xin; Johansson, Stefan; Juodakis, Julius; Kartsonaki, Christina; Kukushkina, Viktorija; Lind, Penelope A.; Metspalu, Andres; Montgomery, Grant W.; Morris, Andrew P.; Mors, Ole; Mortensen, Preben B.; Njølstad, Pål Rasmus; Nordentoft, Merete; Nyholt, Dale R.; Lippincott, Margaret; Seminara, Stephanie; Salumets, Andres; Snieder, Harold; Zondervan, Krina; Werge, Thomas; Chen, Zhengming; Conrad, Donald F.; Jacobsson, Bo; Li, Liming; Martin, Nicholas G.; Neale, Benjamin M.; Nielsen, Rasmus; Walters, Robin G. (Journal article; Peer reviewed, 2020)
      Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic ...
    • Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics 

      Beaumont, Robin N.; Warrington, Nicole M.; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C.; Paternoster, Lavinia; Bradfield, Jonathan P.; Kreiner-Møller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L.; Painter, Jodie N.; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J.; Espinosa, Ana; Marsh, Julie A.; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J.; Bouchard, Luigi; Das, Shikta; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M.; Jones, Samuel E.; Kogevinas, Manolis; Lind, Penelope A.; Marullo, Letizia; Medland, Sarah E.; Murray, Anna; Murray, Jeffrey C.; Njølstad, Pål Rasmus; Nohr, Ellen A.; Reichetzeder, Christoph; Ring, Susan M.; Ruth, Katherine S.; Santa-Marina, Loreto; Scholtens, Denise M.; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A.; Vaudel, Marc; Weedon, Michael N.; Willemsen, Gonneke; Wood, Andrew R.; Yaghootkar, Hanieh; Muglia, Louis J.; Bartels, Meike; Relton, Caroline L.; Pennell, Craig E.; Chatzi, Leda; Estivill, Xavier; Holloway, John W.; Boomsma, Dorret I.; Montgomery, Grant W.; Murabito, Joanne M.; Spector, Tim D.; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F.A.; Sørensen, Thorkild I.A.; Jaddoe, Vincent W.; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I.; Hattersley, Andrew T.; Hayes, M. Geoffrey; Hivert, Marie-France; Frayling, Timothy M.; Felix, Janine F.; Hyppönen, Elina; Lowe, William L.; Evans, David M.; Lawlor, Debbie A.; Feenstra, Bjarke; Freathy, Rachel M. (Peer reviewed; Journal article, 2018-02)
      Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated ...
    • 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 (Peer reviewed; Journal article, 2019-10-01)
      Infant and childhood growth are dynamic processes with large changes in BMI during development. By performing genome-wide association studies of BMI at 12 time points from birth to eight years (9286 children, 74,105 ...
    • How important are parents in the development of child anxiety and depression? A genomic analysis of parent-offspring trios in the Norwegian Mother Father and Child Cohort Study (MoBa) 

      Cheesman, Rosa; Eilertsen, Espen Moen; Ahmadzadeh, Yasmin I.; Gjerde, Line C.; Hannigan, Laurie John; Havdahl, Alexandra; Young, Alexander I.; Eley, Thalia C.; Njølstad, Pål Rasmus; Magnus, Per; Andreassen, Ole Andreas; Ystrøm, Eivind; McAdams, Tom A. (Journal article; Peer reviewed, 2020)
      Background Many studies detect associations between parent behaviour and child symptoms of anxiety and depression. Despite knowledge that anxiety and depression are influenced by a complex interplay of genetic and ...
    • Maternal and child gluten intake and association with type 1 diabetes: The Norwegian Mother and Child Cohort Study 

      Lund-Blix, Nicolai Andre; Tapia, German; Mårild, Karl Staffan; Brantsæter, Anne Lise; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild; Størdal, Ketil; Stene, Lars Christian Mørch (Journal article; Peer reviewed, 2020)
      Background The relationship between maternal gluten intake in pregnancy, offspring intake in childhood, and offspring risk of type 1 diabetes has not been examined jointly in any studies. Our aim was to study the relationship ...
    • Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes 

      Tapia, German; Mårild, Karl Staffan; Dahl, Sandra Rinne; Lund-Blix, Nicolai Andre; Viken, Marte K; Lie, Benedicte Alexandra; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild; Cohen, Arieh S; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2019-04)
      OBJECTIVE Circumstantial evidence links 25-hydroxy vitamin D [25(OH)D], vitamin D–binding protein (DBP), vitamin D–associated genes, and type 1 diabetes (T1D), but no studies have jointly analyzed these. We aimed to ...
    • Maternal and offspring genetic risk score analyses of fetal alcohol exposure and attention-deficit hyperactivity disorder risk in offspring 

      Haan, Elis; Sallis, Hannah M.; Ystrøm, Eivind; Njølstad, Pål Rasmus; Andreassen, Ole Andreas; Reichborn-Kjennerud, Ted; Munafo, Marcus R.; Havdahl, Alexandra; Zuccolo, Luisa (Journal article; Peer reviewed, 2021)
      Background: Studies investigating the effects of prenatal alcohol exposure on childhood attention-deficit hyperactivity disorder (ADHD) symptoms using conventional observational designs have reported inconsistent findings, ...
    • Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes 

      Tapia, German; Mortimer, Georgina; Ye, Jody; Gillard, Benjamin Thomas; Chipper-Keating, Saranna; Mårild, Karl Staffan; Viken, Marte K; Lie, Benedicte Alexandra; Joner, Geir; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Størdal, Ketil; Gillespie, Kathleen; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2019-09)
      Background: Maternal microchimerism (MMc), the transmission of small quantities of maternal cells to the fetus, is relatively common and persistent. MMc has been detected with increased frequency in the circulation and ...
    • The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants 

      El Jellas, Khadija; Johansson, Bente Berg; Fjeld, Karianne; Antonopoulos, Aristotelis; Immervoll, Heike; Choi, Man Hung; Hoem, Dag; Lowe, Mark E.; Lombardo, Dominique; Njølstad, Pål Rasmus; Dell, Anne; Mas, Eric; Haslam, Stuart M.; Molven, Anders (Peer reviewed; Journal article, 2018)
      Carboxyl-ester lipase (CEL) is a pancreatic fat-digesting enzyme associated with human disease. Rare mutations in the CEL gene cause a syndrome of pancreatic exocrine and endocrine dysfunction denoted MODY8, whereas a ...
    • Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits 

      Vogelezang, Suzanne; Bradfield, Jonathan P.; Ahluwalia, Tarunveer S.; Curtin, John A.; Lakka, Timo A.; Grarup, Niels; Scholz, Markus; van der Most, Peter J.; Monnereau, Claire; Stergiakouli, Evie; Heiskala, Anni; Horikoshi, Momoko; Fedko, Iryna O.; Vilor-Tejedor, Natalia; Cousminer, Diana L.; Standl, Marie; Wang, Carol A.; Viikari, Jorma; Geller, Frank; Íñiguez, Carmen; Pitkänen, Niina; Chesi, Alessandra; Bacelis, Jonas; Yengo, Loic; Torrent, Maties; Ntalla, Ioanna; Helgeland, Øyvind; Selzam, Saskia; Vonk, Judith M.; Zafarmand, Mohammed H.; Heude, Barbara; Farooqi, Ismaa Sadaf; Alyass, Akram; Beaumont, Robin N.; Have, Christian T.; Rzehak, Peter; Bilbao, Jose Ramon; Schnurr, Theresia M.; Barroso, Inês; Bønnelykke, Klaus; Beilin, Lawrence J.; Carstensen, Lisbeth; Charles, Marie-Aline; Chawes, Bo; Clément, Karine; Closa-Monasterolo, Ricardo; Custovic, Adnan; Eriksson, Johan G.; Vaudel, Marc; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2020)
      The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed ...
    • Parental smoking and risk of childhood-onset type 1 diabetes 

      Magnus, Maria Christine; Tapia, German; Olsen, Sjurdur Frodi; Granström, Charlotta; Mårild, Karl Staffan; Ueland, Per Magne; Midttun, Øivind; Svensson, Jannet; Johannesen, Jesper; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-11)
      Background: A few prospective studies suggest an association between maternal smoking during pregnancy and lower risk of type 1 diabetes. However, the role of unmeasured confounding and misclassification remains unclear. ...